Identification of two novel chromosome regions associated with isolated growth hormone deficiency

Jannine D. Cody, Patricia Heard, Daniel Hale

Research output: Contribution to journalArticle

5 Citations (Scopus)

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 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.

Original languageEnglish (US)
Pages (from-to)1159-1164
Number of pages6
JournalJournal of Pediatric Endocrinology and Metabolism
Volume23
Issue number11
DOIs
StatePublished - Nov 1 2010

Fingerprint

Pituitary Dwarfism
Chromosomes
Genes
Growth Hormone
Integrin beta Chains
Comparative Genomic Hybridization
Oligonucleotide Array Sequence Analysis
DNA

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

Cite this

@article{4db328de29c24617818f49b5c5f6c09d,
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 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.",
author = "Cody, {Jannine D.} and Patricia Heard and Daniel Hale",
year = "2010",
month = "11",
day = "1",
doi = "10.1515/jpem.2010.181",
language = "English (US)",
volume = "23",
pages = "1159--1164",
journal = "Journal of Pediatric Endocrinology and Metabolism",
issn = "0334-018X",
publisher = "Walter de Gruyter GmbH & Co. KG",
number = "11",

}

Identification of two novel chromosome regions associated with isolated growth hormone deficiency. / Cody, Jannine D.; Heard, Patricia; Hale, Daniel.

In: Journal of Pediatric Endocrinology and Metabolism, Vol. 23, No. 11, 01.11.2010, p. 1159-1164.

Research output: Contribution to journalArticle

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

PY - 2010/11/1

Y1 - 2010/11/1

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.

UR - http://www.scopus.com/inward/record.url?scp=78650556678&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=78650556678&partnerID=8YFLogxK

U2 - 10.1515/jpem.2010.181

DO - 10.1515/jpem.2010.181

M3 - Article

C2 - 21284329

AN - SCOPUS:78650556678

VL - 23

SP - 1159

EP - 1164

JO - Journal of Pediatric Endocrinology and Metabolism

JF - Journal of Pediatric Endocrinology and Metabolism

SN - 0334-018X

IS - 11

ER -