Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism.
Clin Genet
; 79(1): 79-85, 2011 Jan.
Article
en En
| MEDLINE
| ID: mdl-21091464
ABSTRACT
Submicroscopic chromosomal anomalies play an important role in the aetiology of intellectual disability (ID) and have been shown to account for up to 10% of non-syndromic forms. We present a family with two affected boys compatible with X-linked inheritance of a phenotype of severe neurodevelopmental disorder co-segregating with a deletion in Xp22.11 exclusively containing the PTCHD1 gene. Although the exact function of this gene is unknown to date, the structural overlap of its encoded patched domain-containing protein 1, the transmembrane protein involved in the sonic hedgehog pathway, and its expression in human cortex and cerebellum as well as in mice and drosophila brain suggests a causative role of its nullisomy in the developmental phenotype of our family. Our findings support the recent notions that PTCHD1 may play a role in X-linked intellectual disability (XLID) and autism disorders.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Receptores de Superficie Celular
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Cromosomas Humanos X
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Genes Ligados a X
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Discapacidad Intelectual
Límite:
Adult
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Child
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Humans
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Male
Idioma:
En
Revista:
Clin Genet
Año:
2011
Tipo del documento:
Article
País de afiliación:
Suiza