AP1S2

Publications

Noojarern S, et al. A novel AP1S2 variant causing leaky splicing in X-linked intellectual disability: Further delineation and intrafamilial variability. Am J Med Genet A. 2024 Sep;194(9):e63639. PMID: 38682877.

Cappuccio G, et al. AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency. Acta Paediatr. 2019 Mar;108(3):564-565. PMID: 30383884.

Zhu D, et al. Identification of a 5 bp duplicate in the AP1S2 gene of an individual with X-linked intellectual disability. Neurogenetics. 2022 Jul;23(3):179-185. PMID: 35391588.

Huo L, et al. A novel splice site mutation in AP1S2 gene for X-linked mental retardation in a Chinese pedigree and literature review. Brain Behav. 2019 Mar;9(3):e01221. PMID: 30714330.

Tzschach A, et al. Next-generation sequencing in X-linked intellectual disability. Eur J Hum Genet. 2015 Nov;23(11):1513-8. PMID: 25649377.

Cacciagli P, et al. AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). Eur J Hum Genet. 2014 Mar;22(3):363-8. PMID: 23756445.

Borck G, et al. Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome. Hum Mutat. 2008 Jul;29(7):966-74. PMID: 18428203.

Saillour Y, et al. Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia. J Med Genet. 2007 Nov;44(11):739-44. PMID: 17617514.

Tarpey PS, et al. Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation. Am J Hum Genet. 2006 Dec;79(6):1119-24. PMID: 17186471.

Turner G, et al. Syndromic form of X-linked mental retardation with marked hypotonia in early life, severe mental handicap, and difficult adult behavior maps to Xp22. Am J Med Genet A. 2003 Mar 15;117A(3):245-50. PMID: 12599187.

Carpenter NJ, et al. Regional localization of a nonspecific X-linked mental retardation gene (MRX59) to Xp21.2-p22.2. Am J Med Genet. 1999 Jul 30;85(3):266-70. PMID: 10398241.

Pettigrew AL, et al. New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures. Am J Med Genet. 1991 Feb-Mar;38(2-3):200-7. PMID: 2018058.

Strain L, et al. Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22. J Med Genet. 1997 Jul;34(7):535-40. PMID: 9222959.

Fried K. X-linked mental retardation and-or hydrocephalus. Clin Genet. 1972;3(4):258-63. PMID: 5054319.