Exome sequencing in a familial form of anorexia nervosa supports multigenic etiology.
J Neural Transm (Vienna)
; 126(11): 1505-1511, 2019 11.
Article
en En
| MEDLINE
| ID: mdl-31388831
ABSTRACT
Anorexia nervosa (AN) is a severe debilitating eating disorder. To date, only very few genes that predispose to AN have been identified. An alternative to association studies is to characterize ultra-rare variants in familial forms of AN. Here, we have implemented this approach to identify pathways that contribute to the development of AN through the analysis of a family with three members suffering from AN by exome analysis. We identified three ultra-rare deleterious variants in three genes (DRD4, CCKAR, NMS), already connected to the reward pathway, that co-segregate with AN, suggesting that this pathway might be playing a predisposing role in AN at least in familial forms.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Anorexia Nerviosa
Tipo de estudio:
Etiology_studies
/
Prognostic_studies
Límite:
Adolescent
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Adult
/
Female
/
Humans
Idioma:
En
Año:
2019
Tipo del documento:
Article