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Id: lil-797894
Autor: Zhang, Y; Zhang, F; Chen, D; Lü, Q; Tang, L; Yang, C; Lei, M; Tong, N.
Título: A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome
Fonte: Braz. j. med. biol. res = Rev. bras. pesqui. méd. biol;49(11):e5261, 2016. tab, graf.
Idioma: en.
Resumo: Loss of function of mutated solute carrier family 12 member 3 (SLC12A3) gene is the most frequent etiology for Gitelman syndrome (GS), which is mainly manifested by hypokalemia, hypomagnesemia and hypocalciuria. We report the genetic characteristics of one suspicious Chinese GS pedigree by gene sequencing. Complete sequencing analysis of the SLC12A3 gene revealed that both the proband and his elder sister had a novel homozygous SLC12A3 mutation: c.2099T>C and p.Leu700Pro. Moreover, the SLC12A3 genes of his mother and daughter encoded the same mutated heterozygote. It was noted that in this pedigree, only the proband complained about recurrent episodes of bilateral lower limb weakness over 8 years, while his elder sister, mother and daughter did not present symptoms. The inconsistent clinical features of this pedigree implied that besides diverse phenotypes possibly originated from the same genotype, gender difference may also dominate the variant GS phenotypes. Further genetic and proteomic research are needed to investigate the precise mechanisms of GS, including the study of specific ethnicities.
Descritores: Síndrome de Gitelman/genética
Homozigoto
Mutação/genética
Membro 3 da Família 12 de Carreador de Soluto/genética
-Grupo com Ancestrais do Continente Asiático
Síndrome de Gitelman/diagnóstico
Linhagem
Fenótipo
Limites: Humanos
Masculino
Feminino
Adulto Jovem
Tipo de Publ: Relatos de Casos
Responsável: BR1.1 - BIREME



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