Gitelman syndrome caused by SLC12A3 gene mutations: a report of pedigree analysis / 临床儿科杂志
Journal of Clinical Pediatrics
; (12): 33-36, 2017.
Article
em Zh
| WPRIM
| ID: wpr-510812
Biblioteca responsável:
WPRO
ABSTRACT
Objective To explore the gene diagnosis of Gitelman syndrome.Methods The clinical data of a child with Gitelman syndrome were retrospectively analyzed along with gene detection results of his elder sister and parents.Results A 6-year-old boy was hospitalized for fever and hypokalemia.Gene detection of SLC12A found a new locus mutation of EXON21 c.2522A>G p.(Asp841Gly) and a heterozygosis of EXON16 c.1946C>T p.(Thr649Met).The diagnosis of Gitelman syndrome was confirmed.His mother carried a heterozygosis mutation of EXON21 c.2522A>G p.(Asp841Gly),while his father and elder sister carried a heterozygosis mutation of EXON16 c.1946C>T p.(Thr649Met).Conclusion Gene detection of SLC12A is helpful in the diagnosis of Gitelman syndrome.The newly discovered mutation of SLC12A3 gene has enriched the mutation spectrum of Gitelman syndrome.
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WPRIM
Idioma:
Zh
Revista:
Journal of Clinical Pediatrics
Ano de publicação:
2017
Tipo de documento:
Article