Institute of Human Genetics, University of Tuebingen, Germany.
Am J Med Genet A. 2012 Oct;158A(10):2587-90. doi: 10.1002/ajmg.a.35562. Epub 2012 Sep 10.
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.
3 号染色体短臂的片段缺失非常罕见。我们报告了一例 3 岁女孩，患有智力残疾、肌肉张力减退、斜视和面部异常，通过 SNP 芯片分析发现其 3p25.3-p26.1 存在 1.24Mb 的片段缺失。缺失区域包含 11 个 RefSeq 基因，包括与肌肉疾病和智力残疾相关的 CAV3 和 SRGAP3/MEGAP。该缺失与一名女孩的更大缺失重叠，该女孩具有更复杂的表型，包括先天性心脏缺陷和癫痫，这表明缺失区间的一个或多个基因的杂合性缺失导致智力缺陷，但不会导致心脏缺陷或癫痫。因此，该患者拓宽了我们对 3p25.3-p26.1 缺失表型后果的认识，并促进了该区域染色体异常的基因型-表型相关性研究。
