GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability.
Am J Med Genet A
; 179(1): 13-19, 2019 01.
Article
en En
| MEDLINE
| ID: mdl-30549416
ABSTRACT
Intellectual disability (ID), a genetically and clinically heterogeneous disorder, affects 1%-3% of the general population and is a major health problem, especially in developing countries and in populations with a high frequency of consanguineous marriage. Using whole exome sequencing, a homozygous missense variation (c.3264G>C, p.W1088C) in a plausible disease causing gene, GPR126, was identified in two patients presenting with profound ID, severe speech impairment, microcephaly, seizures during infancy, and spasticity accompanied by cerebellar hypoplasia. The role of GPR126 in radial sorting and myelination in Schwann cells suggests a mechanism of pathogenesis for ID. Involvement of GPR126 in lethal congenital contracture syndrome 9 has been identified previously, but this is the first report of a plausible candidate gene, GPR126, in ID.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Predisposición Genética a la Enfermedad
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Receptores Acoplados a Proteínas G
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Discapacidad Intelectual
Límite:
Adolescent
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Humans
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Infant
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Male
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2019
Tipo del documento:
Article
País de afiliación:
Irán