A novel gross indel in the growth hormone releasing hormone receptor gene of Indian IGHD patients

Kale, Shantanu; Budyal, Sweta; Kasaliwal, Rajeev; Shivane, Vyankatesh; Raghavan, Vijaya; Lila, Anurag; Bandgar, Tushar; Shah, Nalini

doi:10.1016/j.ghir.2014.07.003

Cited by 6 publications

(2 citation statements)

References 17 publications

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“…Currently more than thirty-three mutations in the GHRH-R gene have been shown to cause impaired GHRH-GH-IGF-1 axis function, whereas no mutations in the GHRH gene have been reported. The large majority of these cases showed an autosomal recessive model of inheritance ( 12 ). Mutations of GHRH-R, classified into six different types, cause defective GHRH functionality ( 13 ).…”

Section: Discussionmentioning

confidence: 99%

“…Missense GHRH-R variants -such as p.G369V or p.T257A- result in partial loss of receptor function due to defective ligand binding and milder phenotypes, occasionally accompanied by hypoglycemia ( 15 ). Splice site mutations of untranslated and coding regions have been reported to lead to gross indels with loss of 5’ regulatory/exon 1 region, leading to fully impaired GHRH-R expression ( 12 ). Other splice-disrupting, single nucleotide polymorphisms like intronic mutations, lead to instability of the produced mRNA, truncated GHRH-R and autosomal recessively inherited IGHD ( 16 ).…”

Section: Discussionmentioning

confidence: 99%

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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

Galli-Tsinopoulou

Kotanidou

Kleisarchaki

et al. 2018

Jcrpe

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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 (GHRH-R) 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 GHRH-R 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 GHRH-R gene.

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Section: Discussionmentioning

confidence: 99%