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  GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability

Hosseini, M., Fattahi, Z., Abedini, S. S., Hu, H., Ropers, H. H., Kalscheuer, V. M., et al. (2019). GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability. Am J Med Genet A, 179(1), 13-19. doi:10.1002/ajmg.a.40531.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0003-5888-1 Version Permalink: http://hdl.handle.net/21.11116/0000-0003-5889-0
Genre: Journal Article

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© 2018 Wiley Periodicals, Inc.
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 Creators:
Hosseini, M., Author
Fattahi, Z., Author
Abedini, S. S., Author
Hu, Hao, Author
Ropers, H. H.1, Author              
Kalscheuer, V. M.2, Author              
Najmabadi, H., Author
Kahrizi, K., Author
Affiliations:
1Emeritus Group of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385695              
2Chromosome Rearrangements and Disease (Vera Kalscheuer), Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385702              

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Free keywords: Gpr126 cerebellar hypoplasia intellectual disability microcephaly
 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.

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Language(s): eng - English
 Dates: 2018-12-042019-01
 Publication Status: Published in print
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 Identifiers: DOI: 10.1002/ajmg.a.40531
ISSN: 1552-4833 (Electronic)1552-4825 (Print)
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Title: Am J Med Genet A
Source Genre: Journal
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Pages: - Volume / Issue: 179 (1) Sequence Number: - Start / End Page: 13 - 19 Identifier: -