Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation
Open accessAbstract
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.
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Mutations in AP1S2 have been previously implicated in phenotypic features associated with autism spectrum disorder and X-linked mental retardation.
“Interestingly, mutations in AP1S2 have been previously implicated in phenotypic features associated with ASD and X-linked mental retardation (Borck et al., 2008; Tarpey et al., 2006).”
From A Highly Conserved Program of Neuronal Microexons Is Misregulated in Autistic Brains (2014) · cites this paper as Tarpey et al., 2006
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- Authors
- Tarpey, P. S., Stevens, C., Teague, J., Edkins, S., O’Meara, S., Avis, T., Barthorpe, S., Buck, G., Butler, A., Cole, J., Dicks, E., Gray, K., Halliday, K., Harrison, R., Hills, K., Hinton, J., Jones, D., Menzies, A., Mironenko, T., Perry, J., Raine, K., Richardson, D., Shepherd, R., Small, A., Tofts, C., Varian, J., West, S., Widaa, S., Yates, A., Catford, R., Butler, J., Mallya, U., Moon, J., Luo, Y., Dorkins, H., Thompson, D., Easton, D. F., Wooster, R., Bobrow, M., Carpenter, N., Simensen, R. J., Schwartz, C. E., Stevenson, R. E., Turner, G., Partington, M., Gecz, J., Stratton, M. R., Futreal, P. A., & Raymond, F. L.
- Affiliations
- Wellcome Sanger Institute (GB)
- Women's and Children's Hospital (AU)
- Greenwood Genetic Center (US)
- University of Cambridge (GB)
- Northwick Park Hospital (GB)
- Cancer Research UK (GB)
- Hunter Genetics (AU)
- Corresponding author
- Stratton, Michael R.
- ORCID
- Tarpey, Patrick S.
- Teague, Jon
- Edkins, Sarah
- Avis, Tim
- Barthorpe, Syd
- Buck, Gemma
- Dicks, Ed
- Gray, Kristian
- Jones, David
- Menzies, Andrew
- Mironenko, Tatiana
- Raine, Keiran
- Richardson, David
- Shepherd, Rebecca
- Widaa, Sara
- Luo, Ying
- Dorkins, Huw
- Thompson, Deborah
- Easton, Douglas F.
- Schwartz, Charles E.
- Stevenson, Roger E.
- Turner, Gillian
- Stratton, Michael R.
- Futreal, P. Andrew
- Raymond, F. Lucy
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2006-12
- Volume
- 79
- Issue
- 6
- Pages
- 1119-1124
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC1698718
- OpenAlex
- W2056485755
- Cited by
- 123
- References
- 17
- Citations by year
- 2025: 3 · 2024: 4 · 2023: 6 · 2022: 10 · 2021: 2 · 2020: 5 · 2019: 10 · 2018: 5 · 2017: 3 · 2016: 5 · 2015: 5 · 2014: 13 · 2013: 4 · 2012: 6
- FWCI
- 4.17
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Adelaide Research & Scholarship (AR&S) (University of Adelaide) (submittedVersion)
- Funders
- National Institute of Child Health and Human Development (HD26202)
- Wellcome Trust
- State Library of New South Wales
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Cellular transport and secretion
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- X-linked intellectual disability, nonsense mutation, splice site mutation, Xp22, clathrin-mediated endocytosis, Golgi apparatus, hypotonia, delayed walking, synaptic development, X chromosome
- MeSH terms
- Adult, Child, Female, Humans, Male, Mutation, Pedigree, Endosomes, Adaptor Protein Complex sigma Subunits, X-Linked Intellectual Disability
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
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