title: 576 kb deletion in 1p36.33-p36.32 containing SKI is associated with limb malformation, congenital heart disease and epilepsy.
abstract: 1p36 deletion (monosomy 1p36) is one of the most common terminal deletions observed in humans, characterized by special facial features, mental retardation, heart defects, development delay and epilepsy. Previously, we reported molecular findings in patients with limb, congenital heart disease (CHD) and other malformations with SNP-array. In a syndromic patient of the same cohort, we detected a small deletion of 1p36.33-p36.32 containing SKI (Sloan-Kettering Institute protooncoprotein). Recently, dominant mutations in SKI were identified to be correlated with Shprintzen-Goldberg syndrome. Retrospective examination revealed this patient with limb malformations, CHD, epilepsy and mild development delay. Together with previous reports, our study suggests that the 1p36.33-1p36.32 deletion encompassing SKI may represents a previous undescribed microdeletion disorder.
authors.affiliation: Department of Gynecology and Obstetrics, Xiangya Hospital of Central South University, China.
authors.forename: Xin
authors.initials: X
authors.lastname: Zhu
authors.forename: Yi
authors.initials: Y
authors.lastname: Zhang
authors.forename: Jian
authors.initials: J
authors.lastname: Wang
authors.forename: Jin-Fu
authors.initials: JF
authors.lastname: Yang
authors.forename: Yi-Feng
authors.initials: YF
authors.lastname: Yang
authors.forename: Zhi-Ping
authors.initials: ZP
authors.lastname: Tan
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002675:Child, Preschool; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D056726:Genetic Association Studies; D006228:Hand Deformities, Congenital / Q000235:genetics; D006344:Heart Septal Defects, Atrial / Q000235:genetics*; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D013577:Syndrome
chemical_list: D004268:DNA-Binding Proteins; D011518:Proto-Oncogene Proteins; C060614:SKI protein, human
keywords: 1p36 deletion; ASD; CHD; CNV; CT; Congenital heart defect; Copy number variation; DGV; Database of Genomic Variants; Epilepsy; Hg19; OMIM; Online Mendelian Inheritance in Man; PCR; SGS; SNP; SNP array; Shprintzen–Goldberg syndrome; atrial septal defect; computed tomography; congenital heart defects; copy number variation; human genome 19; polymerase chain reaction; single nucleotide polymorphism