Molecular analysis of the PAX8 gene in a sample of Mexican patients with primary congenital hypothyroidism: Identification of the recurrent p.Arg31His mutation

Clinical Endocrinology

Volumn 76, Issue 1, 2012, Pages 148-150

  Alcántara Ortigoza, Miguel Angel ^a   González Del Angel, Ariadna ^a   Martínez Cruz, Víctor ^a   Vela Amieva, Marcela ^a   Sánchez Pérez, Carmen ^a   Moreno Rojas, Rosario ^a   Estandía Ortega, Bernardette ^a   Hernández Martínez, Nancy ^a  

^a INSTITUTO NACIONAL DE PEDIATRÍA   (Mexico)

Author keywords

[No Author keywords available]

Indexed keywords

THYROGLOBULIN; THYROTROPIN; TRANSCRIPTION FACTOR PAX8;

APGAR SCORE; BIRTH WEIGHT; CONGENITAL HYPOTHYROIDISM; CONTROLLED STUDY; DNA CONFORMATION; DNA POLYMORPHISM; DNA SPLICING; ECHOGRAPHY; FAMILY HISTORY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; LETTER; MAJOR CLINICAL STUDY; MALE; MEXICO; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SPLICING DEFECT; THYROGLOBULIN BLOOD LEVEL; THYROID DYSGENESIS; THYROID SCINTISCANNING; THYROID WEIGHT;

BASE SEQUENCE; CHILD, PRESCHOOL; CONGENITAL HYPOTHYROIDISM; EXONS; FEMALE; GENE EXPRESSION REGULATION; GENOTYPE; HUMANS; INCIDENCE; INFANT, NEWBORN; MEXICO; MUTATION; PAIRED BOX TRANSCRIPTION FACTORS; PROTEIN ISOFORMS;

EID: 83455200241     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2011.04153.x     Document Type: Letter

References (5)

1. Vela-Amieva, M., Gamboa-Cardiel, S., Pérez-Andrade, M.E., et al. (2004) Epidemiology of congenital hypothyroidism in Mexico. Salud Pública de México, 46, 141-148. (Pubitemid 38765540)
2. Macchia, P.E., Lapi, P., Krude, H., et al. (1998) PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nature Genetics, 19, 83-86. (Pubitemid 28242030)
3. Jo, W., Ishizu, K., Fujieda, K., et al. (2010) Congenital Hypothyroidism Caused by a PAX8 Gene Mutation Manifested as Sodium/Iodide Symporter Gene Defect. Journal of Thyroid Research, doi:.
4. Komatsu, M., Takahashi, T., Takahashi, I., et al. (2001) Thyroid dysgenesis caused by PAX8 mutation: the hypermutability with CpG dinucleotides at codon 31. The Journal of Pediatrics, 139, 597-599. (Pubitemid 32977280)
5. Montanelli, L., &, Tonnachera, M., (2010) Genetics and genomics of hypothyroidism and thyroid dys- and agenesis due to PAX8 and TTF1 mutations. Molecular and Cellular Endocrinology, 322, 64-71.