Identification of a novel de novo GATA3 mutation in a patient with HDR syndrome.
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.
Department of Endocrinology, First Affiliated Hospital of Third Military Medical University, Chongqing, China.
Liu
L
Chen
Department of Endocrinology, First Affiliated Hospital of Third Military Medical University, Chongqing, China.
Bing
B
Chen
Department of Endocrinology, First Affiliated Hospital of Third Military Medical University, Chongqing, China.
Wuilin
W
Leng
Department of Endocrinology, First Affiliated Hospital of Third Military Medical University, Chongqing, China.
Xiaotian
X
Lui
Department of Endocrinology, First Affiliated Hospital of Third Military Medical University, Chongqing, China.
Qinan
Q
Wu
Section of Digestive Disease, Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, USA.
Xinshou
X
Ouyang
Department of Endocrinology, First Affiliated Hospital of Third Military Medical University, Chongqing, China ziwenliang99@163.com.
Ziwen
Z
Liang
D001483:Base Sequence; D001921:Brain / Q000000981:diagnostic imaging; D004252:DNA Mutational Analysis; D050990:GATA3 Transcription Factor / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007011:Hypoparathyroidism / Q000000981:diagnostic imaging / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009401:Nephrosis / Q000000981:diagnostic imaging / Q000235:genetics*; D011860:Radiography, Abdominal; D014057:Tomography, X-Ray Computed; D055815:Young Adult
D050990:GATA3 Transcription Factor; C494749:GATA3 protein, human
GATA3; HDR syndrome; mutation analysis; phenotypic spectrum