TY - JOUR
T1 - Identification of two novel chromosome regions associated with isolated growth hormone deficiency
AU - Cody, Jannine D.
AU - Heard, Patricia
AU - Hale, Daniel
N1 - Funding Information:
This work was supported by The Chromosome 18 Registry & Research Society; the MacDonald family and National Institutes of Health [grant number R01HD045907 to J.D.C.].
PY - 2010/11
Y1 - 2010/11
N2 - 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 22qll.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 (ITGBLI). The remaining two individuals had duplications of 4.7 Mb on chromosome 20ql3.13. This region includes eight genes not previously identified as copy number variants. These genes are ARFGEF2, CSElL, DDX27, ZNFXl, C20orfl99, SNORD12, KCNBl, and PTGIS. Thus, further investigations into these potential candidate genes are necessary.
AB - 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 22qll.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 (ITGBLI). The remaining two individuals had duplications of 4.7 Mb on chromosome 20ql3.13. This region includes eight genes not previously identified as copy number variants. These genes are ARFGEF2, CSElL, DDX27, ZNFXl, C20orfl99, SNORD12, KCNBl, and PTGIS. Thus, further investigations into these potential candidate genes are necessary.
KW - ACGH
KW - Chromosome copy number variation
KW - Gene identification
KW - Growth hormone
KW - Growth hormone deficiency
KW - Growth hormone genetics
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U2 - 10.1515/jpem.2010.181
DO - 10.1515/jpem.2010.181
M3 - Article
C2 - 21284329
AN - SCOPUS:78650556678
SN - 0334-018X
VL - 23
SP - 1159
EP - 1164
JO - Journal of Pediatric Endocrinology and Metabolism
JF - Journal of Pediatric Endocrinology and Metabolism
IS - 11
ER -