title: Identification of two novel chromosome regions associated with isolated growth hormone deficiency.
abstract: The goal of this study was to identify novel candidate genes that may cause or predispose to growth hormone (GH) deficiency. DNA samples from 45 individuals with isolated GH deficiency were assessed using oligonucleotide microarray comparative genomic hybridization. Five individuals with previously unreported copy number variants were identified. Two of the five individuals were hemizygous for regions already known to cause GH deficiency (chromosomes 22q11.21 and 15q26.3). The remaining three individuals had copy number changes involving two novel chromosome regions. One individual had a homozygous deletion of a 2.2 Mb region of 13q33.1 that contains a single gene: integrin, beta-like 1 (ITGBL1). The remaining two individuals had duplications of 4.7 Mb on chromosome 20q13.13. This region includes eight genes not previously identified as copy number variants. These genes are ARFGEF2, CSE1L, DDX27, ZNFX1, C20orf199, SNORD12, KCNB1, and PTGIS. Thus, further investigations into these potential candidate genes are necessary.
authors.affiliation: Department of Pediatrics, University of Texas Health Science Center at San Antonio, USA. cody@uthscsa.edu
authors.forename: Jannine D
authors.initials: JD
authors.lastname: Cody
authors.forename: Patricia
authors.initials: P
authors.lastname: Heard
authors.forename: Daniel
authors.initials: D
authors.lastname: Hale
mesh_terms: D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D002882:Chromosomes, Human, Pair 13; D002890:Chromosomes, Human, Pair 20; D055028:Comparative Genomic Hybridization; D005260:Female; D018628:Gene Dosage; D006130:Growth Disorders / Q000235:genetics*; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D008297:Male; D017526:Receptor, IGF Type 1 / Q000235:genetics
chemical_list: D019382:Human Growth Hormone; D017526:Receptor, IGF Type 1