Growth hormone insufficiency associated with haploinsufficiency at 18q23.
Growth hormone insufficiency is a common cause of growth failure in children with the 18q- syndrome. Individuals with this syndrome have a deletion as large as 36 Mb from the long arm of chromosome 18. We have evaluated 33 children with this syndrome for growth hormone production and have identified a region of approximately 2 Mb, which is deleted in every growth hormone insufficient patient. Two genes contained in this region, myelin basic protein, and the galanin receptor, are candidate genes for the growth hormone insufficiency phenotype.
Cody
J D
JD
Department of Cellular and Structural Biology, University of Texas Health Science Center at San Antonio 78284, USA.
Hale
D E
DE
Brkanac
Z
Z
Kaye
C I
CI
Leach
R J
RJ
D002648:Child; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002887:Chromosomes, Human, Pair 18; D005819:Genetic Markers; D006130:Growth Disorders / Q000235:genetics*; D006239:Haplotypes; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D004676:Myelin Basic Protein / Q000172:deficiency / Q000235:genetics; D044088:Receptors, Galanin; D011964:Receptors, Gastrointestinal Hormone / Q000172:deficiency / Q000235:genetics
D005819:Genetic Markers; D004676:Myelin Basic Protein; D044088:Receptors, Galanin; D011964:Receptors, Gastrointestinal Hormone; D019382:Human Growth Hormone