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GATA3 mutation in a family with hypoparathyroidism, deafness and renal dysplasia syndrome
Zi-Yang Zhu, Qiao-Li Zhou, Shi-Ning Ni, Wei Gu
Nanjing, China
Author Affiliations: Department of Pediatric Endocrinology, Nanjing Children's Hospital Affiliated to Nanjing Medical University, 72 Guangzhou Road, Nanjing 210008, China (Zhu ZY, Zhou QL, Ni SN, Gu W)
Corresponding Author: Wei Gu, MM, Department of Pediatric Endocrinology, Nanjing Children's Hospital Affiliated to Nanjing Medical University, 72 Guangzhou Road, Nanjing 210008, China (Email: guwei154@163.com)
doi: 10.1007/s12519-014-0505-x
Background: The hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant disorder primarily caused by GATA3 gene mutation. We report here a case that both of a Chinese boy and his father had HDR syndrome which caused by a novel mutation of GATA3.
Methods: Polymerase chain reaction and DNA sequencing was performed to detect the exons of the GATA3 gene for mutation analysis.
Results: Sequence analysis of GATA3 revealed a heterozygous nonsense mutation in this family: a mutation of GATA3 at exon 2 (c.515C >A) that resulted in a premature stop at codon 172 (p.S172X) with a loss of two zinc finger domains.
Conclusion: We identified a novel nonsense mutation which will expand the spectrum of HDR-associated GATA3 mutations.
World J Pediatr 2014;10(3):278-280
Key words: HDR syndrome;
mutation
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