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Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation.

ABSTRACT: In a systematic sequencing screen of the coding exons of the X chromosome in 250 families with X-linked mental retardation (XLMR), we identified two nonsense mutations and one consensus splice-site mutation in the AP1S2 gene on Xp22 in three families. Affected individuals in these families showed mild-to-profound mental retardation. Other features included hypotonia early in life and delay in walking. AP1S2 encodes an adaptin protein that constitutes part of the adaptor protein complex found at the cytoplasmic face of coated vesicles located at the Golgi complex. The complex mediates the recruitment of clathrin to the vesicle membrane. Aberrant endocytic processing through disruption of adaptor protein complexes is likely to result from the AP1S2 mutations identified in the three XLMR-affected families, and such defects may plausibly cause abnormal synaptic development and function. AP1S2 is the first reported XLMR gene that encodes a protein directly involved in the assembly of endocytic vesicles.

SUBMITTER: Tarpey PS 

PROVIDER: S-EPMC1698718 | biostudies-literature | 2006 Dec

REPOSITORIES: biostudies-literature

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Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation.

Tarpey Patrick S PS   Stevens Claire C   Teague Jon J   Edkins Sarah S   O'Meara Sarah S   Avis Tim T   Barthorpe Syd S   Buck Gemma G   Butler Adam A   Cole Jennifer J   Dicks Ed E   Gray Kristian K   Halliday Kelly K   Harrison Rachel R   Hills Katy K   Hinton Jonathon J   Jones David D   Menzies Andrew A   Mironenko Tatiana T   Perry Janet J   Raine Keiran K   Richardson David D   Shepherd Rebecca R   Small Alexandra A   Tofts Calli C   Varian Jennifer J   West Sofie S   Widaa Sara S   Yates Andy A   Catford Rachael R   Butler Julia J   Mallya Uma U   Moon Jenny J   Luo Ying Y   Dorkins Huw H   Thompson Deborah D   Easton Douglas F DF   Wooster Richard R   Bobrow Martin M   Carpenter Nancy N   Simensen Richard J RJ   Schwartz Charles E CE   Stevenson Roger E RE   Turner Gillian G   Partington Michael M   Gecz Jozef J   Stratton Michael R MR   Futreal P Andrew PA   Raymond F Lucy FL  

American journal of human genetics 20061101 6

In a systematic sequencing screen of the coding exons of the X chromosome in 250 families with X-linked mental retardation (XLMR), we identified two nonsense mutations and one consensus splice-site mutation in the AP1S2 gene on Xp22 in three families. Affected individuals in these families showed mild-to-profound mental retardation. Other features included hypotonia early in life and delay in walking. AP1S2 encodes an adaptin protein that constitutes part of the adaptor protein complex found at  ...[more]

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