Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.
Hum Genet
; 133(9): 1161-7, 2014 Sep.
Article
en En
| MEDLINE
| ID: mdl-24913602
ABSTRACT
The Hennekam lymphangiectasia-lymphedema syndrome is a genetically heterogeneous disorder. It can be caused by mutations in CCBE1 which are found in approximately 25 % of cases. We used homozygosity mapping and whole-exome sequencing in the original HS family with multiple affected individuals in whom no CCBE1 mutation had been detected, and identified a homozygous mutation in the FAT4 gene. Subsequent targeted mutation analysis of FAT4 in a cohort of 24 CCBE1 mutation-negative Hennekam syndrome patients identified homozygous or compound heterozygous mutations in four additional families. Mutations in FAT4 have been previously associated with Van Maldergem syndrome. Detailed clinical comparison between van Maldergem syndrome and Hennekam syndrome patients shows that there is a substantial overlap in phenotype, especially in facial appearance. We conclude that Hennekam syndrome can be caused by mutations in FAT4 and be allelic to Van Maldergem syndrome.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
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Proteínas de Unión al Calcio
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Deformidades Congénitas del Pie
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Deformidades Congénitas de la Mano
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Cadherinas
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Anomalías Craneofaciales
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Proteínas Supresoras de Tumor
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Enfermedades de los Genitales Masculinos
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Inestabilidad de la Articulación
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Linfangiectasia Intestinal
Tipo de estudio:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Humans
Idioma:
En
Revista:
Hum Genet
Año:
2014
Tipo del documento:
Article
País de afiliación:
Países Bajos