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A Novel Variant c.97C>T of the Growth Hormone Releasing Hormone Receptor Gene Causes Isolated Growth Hormone Deficiency Type Ib

TitleA Novel Variant c.97C>T of the Growth Hormone Releasing Hormone Receptor Gene Causes Isolated Growth Hormone Deficiency Type Ib
Publication TypeJournal Article
Year of Publication2018
AuthorsGalli-Tsinopoulou, A., Kotanidou E. P., Kleisarchaki A. N., Kauli R., & Laron Z.
JournalJ Clin Res Pediatr Endocrinol
Volume10
Issue3
Pagination284-288
Date Published2018 07 31
ISSN1308-5735
Abstract

Congenital isolated growth hormone deficiency (IGHD) type 1b is an autosomal recessive genetic condition caused by mutations of growth hormone (GH)-1 or the growth hormone releasing hormone receptor () genes. Affected subjects present with symptoms of growth hormone deficiency (GHD) with low but detectable levels of growth hormone (GH), short stature and responsiveness to GH therapy. We describe a 13-month old girl with severe growth failure who showed a low GH response to two GH provocation tests and a modest increase of insulin-like growth factor-1 (IGF-1) to an IGF-1 generation test. Whole exome sequencing revealed a novel homozygous variant of the gene (c.97C>T), leading to a premature stop codon. Administration of recombinant human GH improved linear growth. This is the first report of a c.97C>T mutation of the gene.

DOI10.4274/jcrpe.5188
Alternate JournalJ Clin Res Pediatr Endocrinol
PubMed ID29537382
PubMed Central IDPMC6083476

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