Linkage mapping and whole exome sequencing identify a shared variant in CX3CR1 in a large multi-generation family.
J Arthroplasty
; 29(9 Suppl): 238-41, 2014 Sep.
Article
en En
| MEDLINE
| ID: mdl-24998320
ABSTRACT
Developmental dysplasia of the hip (DDH) is a crippling condition that affects children and adults, with an average incidence of 1-1.5 cases per 1000 live births. It results in disabling arthritis of the hip in up to 60% patients in the 20-40 year age group. There is no accurate diagnostic test available for newborns. The purpose of our study is to develop a sensitive and specific genetic test for DDH by identifying causative mutations. Linkage analysis and whole exome sequencing of 4 severely affected individuals of a 4 generation 71 member family was performed. The damaging rs3732378 variant in the CX3CR1 chemokine receptor was shared by all affected family members and by 15% of 28 sporadic dysplastics.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Mapeo Cromosómico
/
Receptores de Quimiocina
/
Luxación Congénita de la Cadera
Límite:
Adult
/
Child
/
Female
/
Humans
/
Male
País/Región como asunto:
America do norte
Idioma:
En
Revista:
J Arthroplasty
Asunto de la revista:
ORTOPEDIA
Año:
2014
Tipo del documento:
Article
País de afiliación:
Panamá