title: Microduplication of 3p26.3 in nonsyndromic intellectual disability indicates an important role of CHL1 for normal cognitive function.
abstract: Terminal deletions of chromosome 3p26.3 confined to the CHL1 gene have previously been described in children with intellectual disability and epilepsy. Here, we report for the first time, a 3p26.3 duplication including only the CHL1 gene in an intellectually disabled girl with epilepsy. The penetrance of both deletions and duplications in 3p26.3 is reduced because all chromosomal imbalances were inherited from healthy parents. Further studies are needed to specify the pathogenic mechanism of 3p26.3 imbalances and to estimate recurrence risks in genetic counseling. However, the description of both deletions and duplications of chromosome 3p26.3 in nonsyndromic intellectual disability suggests that CHL1 is a dosage-sensitive gene with an important role for normal cognitive development.
authors: Institute of Human Genetics, University of Göttingen, Göttingen, Germany.
authors: Moneef
authors: M
authors: Shoukier
authors: Sigrid
authors: S
authors: Fuchs
authors: Eva
authors: E
authors: Schwaibold
authors: Michael
authors: M
authors: Lingen
authors: Jutta
authors: J
authors: Gärtner
authors: Knut
authors: K
authors: Brockmann
authors: Birgit
authors: B
authors: Zirn
mesh_terms: D000293:Adolescent; D015815:Cell Adhesion Molecules / Q000235:genetics*; D058674:Chromosome Duplication; D003071:Cognition / Q000502:physiology*; D004827:Epilepsy / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D010641:Phenotype
chemical_list: C490650:CHL1 protein, human; D015815:Cell Adhesion Molecules