World journal of pediatrics : WJP · 2014
GATA3 mutation in a family with hypoparathyroidism, deafness and renal dysplasia syndrome.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Zhu Zi-Yang, Zhou Qiao-Li, Ni Shi-Ning, Gu Wei
Аннотация
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.
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.