Study of a family affected with focal segmental glomerulosclerosis due to mutation of COL4A5 gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 373-376, 2017.
Artigo
em Chinês
| WPRIM
| ID: wpr-335123
ABSTRACT
<p><b>OBJECTIVE</b>To analyze the clinicopathologic features and genetic mutation in a patient diagnosed with focal segmental glomerulosclerosis (FSGS).</p><p><b>METHODS</b>Clinicopathologic data of the patient, who was diagnosed with primary FSGS by renal biopsy, was collected. Mutations of FSGS-related genes were screened with next-generation sequencing. Suspected pathogenic mutation was verified with Sanger sequencing.</p><p><b>RESULTS</b>Next-generation sequencing detected a missense mutation (c.2215C to G, p.P739A) in exon 28 of the COL4A5 gene in the patient. The same mutation was also detected in his mother who was asymptomatic. Another missense mutation (c.2215C to T, p.P739S) in the same codon has been related with Alport syndrome.</p><p><b>CONCLUSION</b>The c.2215C to G (p.P739A) mutation may be one of pathogenic mutations underlying FSGS. This has provided further evidence for the phenotypic heterogeneity of COL4A5 gene mutations.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Dados de Sequência Molecular
/
Sequência de Bases
/
Glomerulosclerose Segmentar e Focal
/
Éxons
/
Colágeno Tipo IV
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Genética
/
Mutação
Limite:
Adulto
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2017
Tipo de documento:
Artigo
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