Premium
Interstitial 3p25.3–p26.1 deletion in a patient with intellectual disability
Author(s) -
Riess Angelika,
Grasshoff Ute,
Schäferhoff Karin,
Bonin Michael,
Riess Olaf,
Horber Veronka,
Tzschach Andreas
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35562
Subject(s) - intellectual disability , haploinsufficiency , genetics , hypotonia , phenotype , girl , exon , epilepsy , gene , biology , medicine , neuroscience
Abstract Interstitial deletions of the short arm of chromosome 3 are rare. We report on a 3‐year‐old girl with intellectual disability, muscular hypotonia, strabismus, and facial anomalies in whom an interstitial 1.24 Mb deletion in 3p25.3–p26.1 was detected by SNP array analysis. The deleted region harbors 11 RefSeq genes including CAV3 and SRGAP3/MEGAP , which had been associated with muscle disorders and intellectual disability, respectively. The deletion overlaps with a slightly larger deletion in a girl with a more complex phenotype including congenital heart defect and epilepsy, which indicates that haploinsufficiency of one or several of the genes in the deleted interval causes intellectual deficits, but not heart defects or epilepsy. Thus, the patient broadens our knowledge of the phenotypic consequences of deletions in 3p25.3–p26.1 and facilitates genotype‐phenotype correlations for chromosome aberrations of this region. © 2012 Wiley Periodicals, Inc.