Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation
- 9 January 2007
- journal article
- case report
- Published by Springer Nature in Human Genetics
- Vol. 121 (3-4) , 501-509
- https://doi.org/10.1007/s00439-006-0284-0
Abstract
We report on three unrelated mentally disabled patients, each carrying a de novo balanced translocation that truncates the autism susceptibility candidate 2 (AUTS2) gene at 7q11.2. One of our patients shows relatively mild mental retardation; the other two display more profound disorders. One patient is also physically disabled, exhibiting urogenital and limb malformations in addition to severe mental retardation. The function of AUTS2 is presently unknown, but it has been shown to be disrupted in monozygotic twins with autism and mental retardation, both carrying a translocation t(7;20)(q11.2;p11.2) (de la Barra et al. in Rev Chil Pediatr 57:549–554, 1986; Sultana et al. in Genomics 80:129–134, 2002). Given the overlap of this autism/mental retardation (MR) phenotype and the MR-associated disorders in our patients, together with the fact that mapping of the additional autosomal breakpoints involved did not disclose obvious candidate disease genes, we ascertain with this study that AUTS2 mutations are clearly linked to autosomal dominant mental retardation.Keywords
This publication has 38 references indexed in Scilit:
- Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardationHuman Genetics, 2005
- Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephalyHuman Genetics, 2005
- Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infectionsJournal of Medical Genetics, 2005
- X-linked mental retardationNature Reviews Genetics, 2005
- A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephalyEuropean Journal of Human Genetics, 2004
- Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotypeJournal of Medical Genetics, 2002
- A genomic map of a 6-Mb region at 13q21-q22 implicated in cancer development: identification and characterization of candidate genesHuman Genetics, 2001
- Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardationNature Genetics, 2000
- A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocationNature Genetics, 2000
- Robust Locally Weighted Regression and Smoothing ScatterplotsJournal of the American Statistical Association, 1979