Molecular genetics of thyroid disorders in the neonate: A review

Journal of Endocrine Genetics

Volumn 2, Issue 4, 2001, Pages 193-213

  Hung, Wellington ^a   Sarlis, Nicholas J ^a  

^a NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

Author keywords

Agenesis; Alpha subunit; Childhood; Cretinism; Deafness; Dysgenesis; Familial dysalbuminemic hyperthyroxinemia; Goiter; Hormone resistance; Hyperthyroidism; Hypothyroidism; Infancy; Neonate; PAX8 gene; Pendrin; Pit I gene; Sodium iodide symporter; Thyroglobulin; Thyroid gland; Thyroid hormone; Thyroid hormone receptor; Thyroid peroxidase; Thyroid specific transcription factors; Thyrotropin; Thyrotropin receptor; Thyroxine; Thyroxine binding globulin; Transthyretin; Triiodothyronine

Indexed keywords

IODINE; THYROGLOBULIN; THYROID HORMONE RECEPTOR; THYROTROPIN; THYROTROPIN RECEPTOR; TRANSCRIPTION FACTOR;

CLINICAL FEATURE; CONGENITAL HYPOTHYROIDISM; HEREDITY; HUMAN; HYPOTHALAMUS HYPOPHYSIS THYROID SYSTEM; MOLECULAR GENETICS; MORPHOGENESIS; NEWBORN; NEWBORN DISEASE; PATHOGENESIS; PATHOPHYSIOLOGY; REVIEW; SCREENING; THYROID DISEASE; THYROID FUNCTION; THYROTOXICOSIS; TISSUE DIFFERENTIATION;

EID: 0035719940     PISSN: 1565012X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (209)

1. Neonatal hypothyroidism: Treatment and outcome
2. Hyperthyroidism in early infancy: Pathogenesis, clinical features and diagnosis with a focus on neonatal hyperthyroidism
3. Concentration of thyroglobulin, iodine contents of thyrogobulin and of iodoaminoacids in human neonate thyroid glands
4. Regulation of thyrotropin secretion
5. Isolation and characterization of the human thyrotropin β-subunit gene
6. The regulation and organization of thyroid stimulating hormone genes
7. Nature, source, and relative significance of circulating thyroid hormones
8. Biochemistry of thyroid hormone formation and secretion
9. The mediator of thyroid iodide accumulation: The sodium/iodide symporter
10. Expression, exon-intron organization, and chromosome mapping of the human sodium-iodide symporter
11. The sodium iodide symporter and its potential role in cancer therapy
12. Thyroid peroxidase-catalyzed iodination and thyroxine formation in various proteins
13. Regional sublocalization of the human peroxidase gene TPO by tritium and fluorescence in-situ hydridization to chromosome 2p25-2p24
14. Thyroid hormone synthesis in thyroglobulin: The mechanism of the coupling reaction
15. Biochemistry of deiodination
16. Thyroid hormone regulation of gene expression
17. Thyroid hormone receptors: Multiple forms, multiple possibilities
18. Thyroid hormone resistance
19. Recent achievements in studies on thyroid hormone binding proteins
20. Carbohydrate structure of thyroxine-binding globulin and their effects on hepatocyte membrane binding
21. 125I-labeled human thyroxine-binding alpha globulin and its turnover in normal and hypothyroid subjects
22. Localization of the human thyroxine-binding globulin gene to the long arm of the X-chromosome (Xq21-22)
23. Hyperthyroxinemia in newborns due to excessive thyroxine-binding globulin
24. Detection of the thyroxine-binding globulin (TBG) in six unrelated families with complete TBG deficiency
25. Complete thyroxine-binding globulin (TBG) deficiency caused by a single nucleotide deletion in the TBG gene
26. Nucleotide deletion resulting in frameshift as a possible cause of complete thyroxine-binding globulin deficiency in six Japanese families
27. 227 by Pro in thyroxine-binding globulin (TBG) is associated with complete TBG deficiency in three of eight families with this inherited defect
28. Partial deficiency of thyroxine-binding globulin: An HLA study
29. Two new inherited defects of the thyroxine-binding globulin (TBG) molecule presenting as partial TBG deficiency
30. Gene amplification as a cause of inherited thyroxine-binding globulin excess in two Japanese families
31. A point mutation in transthyretin increases affinity for thyroxine and produces euthyroid hyperthyroxinemia
32. Transthyretin quaternary and tertiary structural changes facilitate misassembly into amyloid
33. Raised total thyroxine and free thyroxine index but normal free thyroxine. A serum abnormality due to inherited increased affinity of iodothyronines for serum binding protein
34. Detection of familial dysalbuminaemic hyperthyroxinaemia
35. An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families
36. A point mutation in the human serum albumin gene results in familial dysalbuminaemic hyperthyroxinaemia
37. A novel missense mutation in codon 218 of the albumin gene in a distinct phenotype of familial dysalbuminemic hyperthyroxinemia in a Japanese kindred
38. Familial dysalbuminemic hyperthyroxinemia in a Swiss family caused by a mutant albumin (R218P) shows an apparent discrepancy between serum concentration and affinity for thyroxine
39. Congenital hypothyroidism: Etiologies, diagnosis, and management
40. Epidemiology of congenital hypothyroidism
41. Clinical review 49: Iodine deficiency disorders
42. Fetal and neonatal hyperthyroidism
43. Thyroid disease and pregnancy
44. Fetal and neonatal hyperthyroidism due to maternal TSH receptor antibodies
45. Use of thyrotropin receptor (TSHR) mutants to detect stimulating TSHR antibodies in hypothyroid patients with idiopathic myxedema, who have blocking TSHR antibodies
46. Resistance to thyroid hormone: An historical overview
47. Resistance to thyroid hormone
48. Resistance to thyroid hormone in children
49. Prevalence and mechanisms of hearing loss in patients with resistance to thyroid hormone
50. Attention deficit-hyperactivity disorder in people with generalized resistance to thyroid hormone
51. Thyroid hormones correlate with symptoms of hyperactivity but not inattention in attention deficit hyperactivity disorder
52. Thyrotropin-induced hyperthyroidism caused by selective pituitary resistance to thyroid hormone. A new syndrome of "inappropriate secretion of TSH"
53. Genetic and clinical features of 42 kindreds with resistance to thyroid hormone. The National Institutes of Health Prospective Study
54. Sex hormone-binding globulin measurement in patients with inappropriate secretion of thyrotropin (IST): Evidence against selective pituitary thyroid hormone resistance in nonneoplastic IST
55. Treatment of resistance to thyroid hormone - Primum non nocere
56. Multiple endocrine syndrome type IIb in early childhood
57. RET proto-oncogene mutations in multiple endocrine neoplasia type 2 and medullary thyroid carcinoma
58. The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET Mutation Consortium analysis
59. Familial medullary thyroid carcinoma: Presymptomatic diagnosis and management in children
60. Multiple endocrine neoplasia type II and familial medullary thyroid carcinoma. Impact of genetic screening on management
61. Early or prophylactic thyroidectomy in MEN-2/FMTC gene carriers: Results in 71 thyroidectomized patients
62. Familial nonmedullary thyroid carcinoma
63. The role of PTEN, a phosphatase gene, in inherited and sporadic nonmedullary thyroid tumors
64. Cytogenetic and microsatellite alterations in tumors from patients with the syndrome of myxomas, spotty skin pigmentation, and endocrine overactivity (Carney complex)
65. Thyroid gland abnormalities in patients with the syndrome of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas (Carney complex)
66. Epigenetic inactivation of LKB1 in primary tumors associated with the Peutz-Jeghers syndrome
67. Familial adenomatous polyposis associated thyroid carcinoma: A distinct type of follicular cell neoplasm
68. Cribriform variant papillary thyroid cancer: A characteristic of familial adenomatous polyposis
69. Germline mutations of the APC gene in patients with familial adenomatous polyposis-associated thyroid carcinoma: Results from a European cooperative study
70. Papillary thyroid carcinoma associated with papillary renal neoplasia: Genetic linkage analysis of a distinct heritable tumor syndrome
71. Familial thyroid cancer
72. Localization of a susceptibility gene for familial nonmedullary thyroid carcinoma to chromosome 2q21
73. Mapping of a gene predisposing to familial thyroid tumors with cell oxyphilia to chromosome 19 and exclusion of JUN B as a candidate gene
74. Thyroid nuclear factor 1 (TTF-1) contains a homeodomain and displays a novel DNA binding specificity
75. Gene structure and expression of human thyroid transcription factor-1 in respiratory epithelial cells
76. Thyroid-specific enhancer-binding protein (T/EBP): cDNA cloning, functional characterization, and structural identity with thyroid transcription factor-1
77. The T/ebp null mouse: Thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary
78. Cloning, chromosomal localization and identification of polymorphism in the human thyroid transcription factor-2 gene (TTF2)
79. A mouse model for hereditary thyroid dysgenesis and cleft palate
80. Pax: A murine multigene family of paired box-containing genes
81. PAX8, a human paired box gene: Isolation and expression in developing thyroid, kidney and Wilms's tumor
82. Distinct functional properties of three paired-box-protein, PAX8, isoforms generated by alternative splicing in thyroid, kidney and Wilms's tumors
83. Follicular cells of the thyroid gland require Pax8 gene function
84. Pax-8, a paired domain-containing protein, binds to a sequence overlapping the recognition site of a homeodomain and activates transcription from two thyroid-specific promoters
85. Deletion of thyroid transcription factor-1 gene in infant with neonatal thyroid dysfunction and respiratory failure
86. Deletion of Nkx2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure
87. Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia
88. PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
89. Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8
90. The thyrotropin receptor and the regulation of thyrocyte function and growth: Update 1994
91. The thyrotropin receptor and the regulation of thyrocyte function and growth
92. The thyrotropin receptor
93. G proteins in cellular control
94. Somatic and germline mutations of the TSH receptor gene in thyroid diseases
95. Clinical implications of genetic defects in G proteins. The molecular basis of McCune-Albright syndrome and Albright hereditary osteodystrophy
96. Brief report: Resistance to thyrotropin caused by mutation in the thyrotropin gene
97. Four families with loss of function mutations of the thyrotropin receptor
98. Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH
99. Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland
100. Congenital hypothyroidism caused by mutations in the thyrotropin-receptor gene
101. The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor
102. Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin
103. Somatic and germline mutations of the TSH receptor and thyroid diseases
104. Thyroid-stimulating hormone receptor mutations: Update and clinical implications
105. Hyperthyroidism in early infancy: Pathogenesis, clinical features and diagnosis with a focus on neonatal hyperthyroidism
106. Brief report: Congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene
107. A new mutation of the thyroid-stimulating hormone receptor in neonatal hyperthyroidism
108. Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism
109. Sporadic congenital hyperthyroidism due to a spontaneous germline mutation in the thyrotropin receptor gene
110. 281→isoleucine) in the extracellular domain of the thyrotropin receptor
111. 453 →Thr)
112. Mutations of the TSH receptor as cause of congenital hyperthyroidism
113. Constitutively active germline mutation of the thyrotropin receptor gene as a cause of congenital hyperthyroidism
114. 629→Phe) in a family with neonatal onset of autosomal dominant nonautoimmune hyperthyroidism
115. Severe congenital hyperthyroidism caused by a germ-line neo-mutation in the extracellular portion of the thyrotropin receptor
116. A novel thyrotropin receptor mutation in an infant with severe thyrotoxicosis
117. Constitutuvely activating TSH receptor mutations as the cause of toxic thyroid adenoma, multinodular toxic goiter and autosomal dominant nonautoimmune hyperthyroidism
118. The human thyrotropin receptor is highly mutable: A review of gain-of-function mutations
119. Thyroglobulin, hormone synthesis and thyroid disease
120. Structure, expression and regulation of the thyroglobulin gene
121. Genomic organization of the human thyroglobulin gene: The complete intron-exon structure
122. Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism
123. A 31 splice site mutation in thyroglobulin gene responsible for congenital goiter with hypothyroidism
124. A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger
125. A premature stop-codon in the thyroglobulin mRNA results in familial goiter and moderate hypothyroidism
126. Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter
127. Congenital goiter with hypothyroidism caused by a 5′-splice site mutation in the thyroglobulin gene
128. Congenital human thyroglobulin defect due to low expression of the thyroid-specific transcription factor TTF-1
129. Pit-1 and hypopituitarism
130. Role of a pituitary transcription factor (Pit-1/GHF-1) or a closely related protein in cAMP regulation of human thyrotropin-β subunit gene expression
131. Cretinism with combined hormone deficiency caused by a mutation in the PITI gene
132. A "hot spot" in the Pit-1 gene responsible for combined pituitary hormone deficiency: Clinical and molecular correlates
133. Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency
134. Deoxyribonucleic acid analysis of five families with familial inherited thyroid stimulating hormone deficiency
135. Thyroid-stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the β-subunit
136. Familial hypothyroidism caused by a nonsense mutation in thyroid-stimulating hormone beta-subunit gene
137. A circulatory, biological inactive thyrotropin caused by a mutation in the beta subunit gene
138. Congenital central hypothyroidism due to a homozygous mutation in the thyrotropin β-subunit gene follows an autosomal recessive inheritance
139. Severe congenital hypothyroidism due to a homozygous mutation of the β TSH gene
140. New autosomal recessive mutation of the TSH-β subunit gene causing central isolated hypothyroidism
141. Congenital central isolated hypothyroidism caused by a homozygous mutation in the TSH-β subunit gene
142. Congenital goiter with defective iodide transport
143. Some observations on cretinism and its therapy
144. - symporter
145. A novel V59E missense mutation in the sodium iodide symporter gene in a family with iodide transport defect
146. Congenital hypothyroidism due to mutations in the sodium/iodide symporter: Identification of a nonsense mutation producing a downstream cryptic 31 splice site
147. A homozygous missense mutation in the sodium/iodide symporter gene causing iodide transport defect
148. Novel missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients
149. Thyroid iodine transport
150. Mutations in the sodium/iodide symporter (NIS) gene as a cause for iodide transport defects and congenital hypothyroidism
151. Genetic linkage studies of thyroid peroxidase (TPO) gene in families with TPO deficiency
152. Hormone synthesis: Thyroid iodine metabolism
153. Regional localization of the gene for thyroid peroxidase to chromosome 2pter→p12
154. Structure of the human thyroid peroxidase gene: Comparison and relationship to the human myeloperoxidase gene
155. Perchlorate and the thyroid gland
156. Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects
157. Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: Power and limits of homozygosity mapping
158. Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter
159. A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism
160. Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update)
161. Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidism
162. A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect
163. A novel mutation in the human peroxidase gene resulting in a total iodide organification defect
164. Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism
165. Deaf-mutism and goitre
166. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
167. Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre)
168. Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells
169. The Pendred syndrome gene encodes a chloride-iodide transport protein
170. Sulphate transport is not impaired in Pendred syndrome thyrocytes
171. Association of congenital deafness with goitre: The nature of the thyroid defect
172. Clinical and molecular analysis of three Mexican families with Pendred's syndrome
173. Molecular analysis of the Pendred syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome
174. Genetic epidemiological studies of early-onset deafness in the U.S. school-age population
175. The syndrome of sporadic goitre and congenital deafness
176. Association of congenital deafness with goitre (Pendred's syndrome)
177. Familial large vestibular aqueduct syndrome
178. Pendred syndrome: 100 Years of underascertainment
179. The inner ear in Pendred's syndrome
180. Radiological malformations of the ear in Pendred syndrome
181. Two frequent missense mutations in Pendred syndrome
182. Pendred's syndrome: Identification of the genetic defect a century after its recognition
183. A novel mutation in the pendrin gene associated with Pendred's syndrome
184. Two Chinese families with Pendred's syndrome - Radiological imaging of the ear and molecular analysis of the pendrin gene
185. The c-erb-A protein is a high-affinity receptor for thyroid hormone
186. The c-erb-A gene encodes a thyroid hormone receptor
187. The steroid and thyroid hormone receptor superfamily
188. Regulation of gene expression by the thyroid hormone receptor
189. Physiological and molecular basis of thyroid hormone action
190. Nuclear thyroid hormone receptors
191. Spatia l and temporal expression of alpha- and beta-thyroid hormone receptor mRNAs, including the beta 2-subtype, in the developing mammalian nervous system
192. Alpha and beta thyroid hormone receptor (TR) gene expression during auditory neurogenesis: Evidence for TR isoform-secific transcriptional regulation in vivo
193. Genetic analysis of thyroid hormone receptors in development and disease
194. A unique role of the beta-2 thyroid hormone receptor isoform in negative regulation by thyroid hormone. Mapping of a novel amino-terminal domain important for ligand-independent activation
195. Thyroid hormone receptor beta is essential for development of auditory function
196. Thyroid hormone action 1994: The plot thickens
197. Tight linkage between the syndrome of generalized thyroid hormone resistance and the human c-erbA beta gene
198. Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta
199. A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds
200. Resistance to thyroid hormone
201. Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene
202. The variable clinical phenotype in thyroid hormone resistance syndrome
203. Characterization of seven novel mutations of the c-erbA beta gene in unrelated kindreds with generalized thyroid hormone resistance. Evidence for two "hot spot" regions of the ligand binding domain
204. A novel point mutation (R243Q) in exon 7 of the c-erbA beta thyroid hormone receptor gene in a family with resistance to thyroid hormone
205. A role for helix 3 of the TRbeta ligand-binding domain in coactivator recruitment identified by characterization of a third cluster of mutations in resistance to thyroid hormone
206. Familial syndrome combining deaf-mutism, stippled epiphyses, goiter and abnormally high PBI: Possible target organ refractoriness to thyroid hormone
207. Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene