Open AccessIdentification of a novel de novo GATA3 mutation in a patient with HDR syndrome
Author(s) -
Liu Chen,
Bing Chen,
Wuilin Leng,
Xiaotian Lui,
Qinan Wu,
Xinshou Ouyang,
Ziwen Liang
Publication year - 2015
Publication title -
journal of international medical research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.421
H-Index - 57
eISSN - 1473-2300
pISSN - 0300-0605
DOI - 10.1177/0300060515591065
Subject(s) - medicine , haploinsufficiency , frameshift mutation , hypocalcaemia , exon , mutation , hypoparathyroidism , gata3 , proteinuria , sensorineural hearing loss , creatinine , pathology , endocrinology , hearing loss , gene , genetics , kidney , phenotype , calcium , biology , transcription factor , audiology
We describe the case of a 21-year-old male with hypocalcaemia, hyperphosphataemia, recurrent limb twitch, deafness, proteinuria, increased serum creatinine and urea nitrogen levels, and shrinkage of both kidneys. Brain computed tomography showed intracranial calcifications. The patient was diagnosed with hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome. DNA sequence analysis of the GATA3 gene showed a novel de novo mutation, c. 529dupC (p. Arg177profs*126), in exon 2, resulting in a frameshift mutation with a premature stop codon after a new 126 amino acid sequence. We provide further evidence that HDR syndrome is caused by haploinsufficiency of GATA3.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom