伴有GATA3突变的甲状旁腺功能减退、感音神经性耳聋和肾发育不全综合征

Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation.

作者信息

Shim Yong Suk, Choi Woohyeok, Hwang Il Tae, Yang Seung

机构信息

Department of Pediatrics, Hallym University College of Medicine, Seoul, Korea.

出版信息

Ann Pediatr Endocrinol Metab. 2015 Mar;20(1):59-63. doi: 10.6065/apem.2015.20.1.59. Epub 2015 Mar 31.

DOI:10.6065/apem.2015.20.1.59

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4397275/

Abstract

Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome is an autosomal dominant disease caused by mutations in the GATA3 gene on chromosome 10p15. We identified a patient diagnosed with hypoparathyroidism who also had a family history of hypoparathyroidism and sensorineural deafness, present in the father. The patient was subsequently diagnosed and found to be a heterozygote for an insertion mutation c.255_256ins4 (GTGC) in exon 2 of GATA3. His father was also confirmed to have the same mutation in GATA3.

摘要

甲状旁腺功能减退、感音神经性耳聋和肾发育不全综合征是一种常染色体显性疾病，由10号染色体p15上的GATA3基因突变引起。我们鉴定出一名被诊断为甲状旁腺功能减退的患者，其父亲患有甲状旁腺功能减退和感音神经性耳聋，存在家族病史。该患者随后被诊断出是GATA3基因第2外显子插入突变c.255_256ins4（GTGC）的杂合子。他的父亲也被证实GATA3基因存在相同突变。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b583/4397275/34d6335f8b6d/apem-20-59-g001.jpg

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