Identification of pathological variants of SLC12A3 gene in a pedigree affected with Gitelman syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1368-1370, 2020.
Artigo
em Chinês
| WPRIM
| ID: wpr-879501
ABSTRACT
OBJECTIVE@#To detect pathological variants of the SLC12A3 gene in a Chinese pedigree affected with Gitelman syndrome (GS).@*METHODS@#Clinical data and peripheral blood samples of the proband and his family members were collected. All exons of the SLC12A3 gene were amplified by PCR and subjected to Sanger sequencing.@*RESULTS@#Sanger sequencing has revealed that the proband has carried a c.486_489 delTACG (p.Ile162Met fs*8) deletion and a heterozygous c.2890C>T (p.Arg964Trp) missense variant in the SLC12A3 gene. Neither variant was reported previously and was not found among healthy controls.@*CONCLUSION@#The c.486_489delTACG (p.Ile162Met fs*8) and c.2890C>T (p.Arg964Trp) variants of the SLC12A3 gene probably underlay the GS in the proband. Above discovery has enriched the variant spectrum of GS.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
China
/
Síndrome de Gitelman
/
Membro 3 da Família 12 de Carreador de Soluto
/
Heterozigoto
/
Mutação
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2020
Tipo de documento:
Artigo
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