Major contribution of dominant inheritance to autism spectrum disorders (ASDs) in population-based families.
J Hum Genet
; 54(12): 721-6, 2009 Dec.
Article
en En
| MEDLINE
| ID: mdl-19893580
ABSTRACT
Results of twin studies have shown that autism spectrum disorders (ASDs) are attributable to complex multigenic interactions rather than to a single susceptibility gene. However, the growing number of distinct, individually rare genetic causes of ASDs, mostly copy number variations (CNVs), favors an alternative to the polygenic hypothesis, the two-component model, which suggests that ASDs are caused either by de novo mutation or by dominant inheritance from asymptomatic carriers of such a mutation. To verify this hypothesis, we estimated the distribution of ASD-risk among both catchment area-based families and multiplex families. Our results suggest that the models with more than three risk components are preferable to the two-component model. Our results also suggest that the largest proportion of ASD cases is caused by dominant inheritance. We additionally show that Supplementary information regarding prevalence has a crucial role in analyzing proband-ascertained data.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Algoritmos
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Trastornos Generalizados del Desarrollo Infantil
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Modelos Genéticos
Tipo de estudio:
Etiology_studies
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Prognostic_studies
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Risk_factors_studies
Límite:
Child, preschool
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Female
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Humans
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Infant
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Male
Idioma:
En
Año:
2009
Tipo del documento:
Article