A case of HDR syndrome and ichthyosis: Dual diagnosis by whole-genome sequencing of novel mutations in GATA3 and STS genes

Journal of Clinical Endocrinology and Metabolism

Volumn 101, Issue 3, 2016, Pages 837-840

  Goodwin, Gregory ^a,b   Hawley, Pamela P ^b   Miller, David T ^b  

^a Division of Endocrinology   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCITRIOL; CALCIUM SENSING RECEPTOR; PARATHYROID HORMONE; PHOSPHATE; RANITIDINE; STERYL SULFATASE; TRANSCRIPTION FACTOR GATA 3; XIPAMIDE; GATA3 PROTEIN, HUMAN; STS PROTEIN, HUMAN;

ANEMIA; ARTICLE; ARTIFICIAL MILK; BIRTH WEIGHT; CASE REPORT; CHILD; DRY SKIN; EXON; FAILURE TO THRIVE; FAMILY HISTORY; GATA3 GENE; GENE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; HEARING AID; HEARING IMPAIRMENT; HUMAN; HYPERPHOSPHATEMIA; HYPOCALCEMIA; HYPOPARATHYROIDISM; ICHTHYOSIS; KARYOTYPE 46,XY; KIDNEY FAILURE; LACTOSE INTOLERANCE; MALE; MATERNAL HYPERTENSION; MICROARRAY ANALYSIS; MILD COGNITIVE IMPAIRMENT; MISSENSE MUTATION; MUSCLE HYPERTONIA; NEPHROLITHIASIS; NUCLEAR MAGNETIC RESONANCE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SHORT STATURE; SPEECH DELAY; STS GENE; VOMITING; X LINKED ICHTHYOSIS; DNA SEQUENCE; EXOME; GENETICS; HEARING LOSS, SENSORINEURAL; MUTATION; NEPHROSIS;

CHILD; EXOME; GATA3 TRANSCRIPTION FACTOR; HEARING LOSS, SENSORINEURAL; HUMANS; HYPOPARATHYROIDISM; ICHTHYOSIS; MALE; MUTATION; NEPHROSIS; SEQUENCE ANALYSIS, DNA; STERYL-SULFATASE;

EID: 84960871249     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2015-3704     Document Type: Article

References (11)

1. Yang Y, Muzny DM, Reid JG, et al. Clinical whole-exome sequencing for the diagnosis of Mendelian disorders. N Engl J Med. 2013; 369:1502-1511.
2. Yang Y, Muzny DM, Xia F, et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014;312: 1870-1879.
3. Lee H, Deignan JL, Dorrani N, et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA. 2014; 312:1880-1887.
4. Van Esch H, Groenen P, Nesbit MA, et al. GATA3 haplo-insuffi-ciency causes human HDR syndrome. Nature.2000;406:419-422.
5. Muroya K, Hasegawa T, Ito Y, et al. GATA3 abnormalities and the phenotypic spectrum of HDR syndrome. J Med Genet. 2001;38: 374-380.
6. Upadhyay J, Steenkamp DW, Milunsky JM. The syndrome of hy-poparathyroidism, deafness, and renal anomalies. Endocr Pract. 2013;19:1035-1042.
7. Nakamura A, Fujiwara F, Hasegawa Y, et al. Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome. Endocr J. 2011;58:123-130.
8. Ali A, Christie PT, Grigorieva, et al. Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor. Hum Mol Genet. 2007; 16(3):265-275.
9. Elias PM, Williams ML, Choi EH, Feingold KR. Role of cholesterol sulfate in epidermal structure and function: lessons from X-linked ichthyosis. Biochem Biophys Acta. 2014;1841:353-361.
10. Hand JL, Runke CK, Hodge JC. The phenotype spectrum of X-linked ichthyosis identifiedby chromosomal microarray. J Am Acad Dermatol. 2015;72(4):617-627.
11. Sugawara T, Shimizu H, Hoshi N, Fujimoto Y, Nakajima A, Fu-jimoto S. PCR diagnosis of X-linked ichthyosis: identification of a novel mutation (E560P) of the steroid sulfatase gene. Hum Mutat. 2000;15:296.