Identification of a Novel Nonsense Mutation in the ARSE Gene of a Patient with X-Linked Recessive Chondrodysplasia Punctata
Neonatal Medicine
;
: 178-182, 2016.
Artigo
em Inglês
| WPRIM
| ID: wpr-179301
ABSTRACT
X-linked recessive chondrodysplasia punctata (CDPX1) is caused by a hemizygous mutation in the arylsulfatase E (ARSE) gene located on chromosome Xp22.3. It is a rare congenital disorder of punctate calcifications in cartilages, leading to short stature and facial and limb anomalies. These clinical features are frequently observed in all types of chondrodysplasia punctata and have also been seen in other cartilage developmental disorders. Because of the phenotypical similarities, specific testing for only one gene is inefficient and time consuming. The advent of next-generation sequencing has provided an opportunity to improve diagnostic accuracy as well as save on time and cost. Here, we report on a patient diagnosed with CDPX1, who was identified via diagnostic exome sequencing to have a novel nonsense mutation in the ARSE gene, that was inherited from the mother.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Cartilagem
/
Condrodisplasia Punctata
/
Códon sem Sentido
/
Extremidades
/
Exoma
/
Mães
/
Doenças e Anormalidades Congênitas, Hereditárias e Neonatais
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
Idioma:
Inglês
Revista:
Neonatal Medicine
Ano de publicação:
2016
Tipo de documento:
Artigo
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