A diagnosis of hypochondroplasia by next generation sequencing
Journal of Genetic Medicine
;
: 46-50, 2016.
Artigo
em Inglês
| WPRIM
| ID: wpr-164781
ABSTRACT
Achondroplasia and hypochondroplasia are the two most common forms of short-limb dwarfism. They are autosomal dominant diseases that are characterized by a rhizomelic shortening of the limbs, large head with frontal bossing, hypoplasia of the mid-face, genu varum and trident hands. Mutations in the fibroblast growth factor receptor-3 (FGFR3) gene, which is located on chromosome 4p16.3, have been reported to cause achondroplasia and hypochondroplasia. More than 98% of achondroplasia cases are caused by the G380R mutation (c.1138G>A or c.1138G>C). In contrast, the N540K mutation (c.1620C>A) is detected in 60-65% of hypochondroplasia cases. Tests for common mutations are often unable to detect the mutation in patients with a clinical diagnosis of hypochondroplasia. In this study, we presented a case of familial hypochondroplasia with a rare mutation in FGFR3 identified by next generation sequencing.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Acondroplasia
/
Diagnóstico
/
Nanismo
/
Extremidades
/
Genu Varum
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Fatores de Crescimento de Fibroblastos
/
Mãos
/
Cabeça
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Humanos
Idioma:
Inglês
Revista:
Journal of Genetic Medicine
Ano de publicação:
2016
Tipo de documento:
Artigo
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