Clinical and genetic study of a Chinese family affected with caveolinopathies / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 650-653, 2017.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-344204
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To analyze clinical features and genetic mutations in a Chinese family affected with autosomal dominant caveolinopathies.</p><p><b>METHODS</b>Clinical data of the proband and her family members were collected. Genomic DNA was extracted from peripheral blood samples with a standard procedure. Next generation sequencing was carried out for the proband, and direct sequencing was employed to detect potential mutation of the CAV gene.</p><p><b>RESULTS</b>The proband presented with slowly progressing distal muscle weakness and atrophy, especially distal upper limbs and muscular soreness during early childhood, with her CK level moderately elevated and EMG showing myogenic and neurogenic injuries. Her sisters presented mild symptoms with hand muscle atrophy and fasciculation after exercise. A heterozygous missense mutation c.80G>A (p.Arg27Gln), which was reported as being pathogenic, was identified in the CAV3 gene in the proband and her sisters.</p><p><b>CONCLUSION</b>A heterozygous c.80G>A (p.Arg27Gln) mutation in the CAV3 gene probably underlies the autosomal dominant caveolinopathies in this Chinese family.</p>
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Caveolina 3
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Genética
/
Distrofias Musculares
/
Mutação
Limite:
Feminino
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2017
Tipo de documento:
Artigo