Study of a family with epidermolysis bullosa simplex resulting from a novel mutation of KRT14 gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 504-508, 2017.
Artigo
em Chinês
| WPRIM
| ID: wpr-335095
ABSTRACT
<p><b>OBJECTIVE</b>To determine the molecular etiology for a Chinese pedigree affected with epidermolysis bullosa simplex (EBS).</p><p><b>METHODS</b>Target region sequencing using a hereditary epidermolysis bullosa capture array combined with Sanger sequencing and bioinformatics analysis were used. Mutation taster, PolyPhen-2, Provean, and SIFT software and NCBI online were employed to assess the pathogenicity and conservation of detected mutations. One hundred healthy unrelated individuals were used as controls.</p><p><b>RESULTS</b>Target region sequencing showed that the proband has carried a unreported heterozygous c.1234A>G (p.Ile412Val) mutation of the KRT14 gene, which was confirmed by Sanger sequencing in other 8 affected individuals but not among healthy members of the pedigree. Bioinformatics analysis indicated that the mutation is highly pathogenic. Remarkably, 3 members of the family (2 affected and 1 unaffected) have carried a heterozygous c.1237G>A (p.Ala413Thr) mutation of the KRT14 gene, which was collected in Human Gene Mutation Database (HGMD). Bioinformatics analysis indicated that the mutation may not be pathogenic. Both mutations were not detected among the 100 healthy controls.</p><p><b>CONCLUSION</b>The novel c.1234A>G(p.Ile412Val) mutation of the KRT14 gene is probably responsible for the disease, while c.1237G>A (p.Ala413Thr) mutation of KRT14 gene may be a polymorphism. Compared with Sanger sequencing, target region capture sequencing is more efficient and can significantly reduce the cost of genetic testing for EBS.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Estudos de Casos e Controles
/
Epidermólise Bolhosa Simples
/
Sequência de Aminoácidos
/
Queratina-14
/
Genética
/
Mutação
Tipo de estudo:
Estudo observacional
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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