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A novel GHR intronic variant, c.266+83G>T , activates a cryptic 5' splice site causing severe GHR deficiency and classical GH insensitivity syndrome.

Abstract：

BACKGROUND/AIMS:Mutations in the human growth hormone receptor gene (GHR) are the most common cause of growth hormone insensitivity (GHI) syndrome and insulin-like growth factor (IGF-1) deficiency. The extracellular domain of GHR (encoded by exons 2-7 of the GHR gene) can be proteolytically cleaved to circulate as GH-binding protein (GHBP). METHODS:We evaluated the cause of classical GHI (Laron) phenotypes in 3 siblings. RESULTS:Two brothers (aged 16.5 and 14.9 years) and their half-brother (aged 11.3 years) presented with extreme short stature (height standard deviation score, SDS, of -7.05, -6.34 and -8.02, respectively). The parents were consanguineous and of normal stature. Serum GHBP levels of probands were undetectable and circulating IGF-1 and IGF-binding protein-3 were abnormally low, but GH concentrations were elevated. Molecular analysis of the GHR gene revealed homozygous deletion of exon 3, a common polymorphism, and a novel c.266+83G>T variant within intron 4 which generated a 5' donor splice site. Splicing events from this cryptic 5' donor site resulted in retention of 81 intronic nucleotides in the GHR mRNA. Long-term rhIGF-1 therapy combined with leuprolide depot increased height by +2 to +3 SDS. CONCLUSION:The c.266+83G>T is the second intronic GHR mutation identified that activates a cryptic 5' donor splice site. The abnormal splicing event led to early protein termination and undetectable serum GHBP concentrations. © 2013 S. Karger AG, Basel.

journal_name

Horm Res Paediatr

journal_title

Hormone research in paediatrics

authors

Feigerlova E,Swinyard M,Derr MA,Farnsworth J,Andrew SF,Rosenfeld RG,Hwa V

doi

10.1159/000355404

subject

Has Abstract

pub_date

2013-01-01 00:00:00

pages

397-405

issue

6

eissn

1663-2818

issn

1663-2826

pii

000355404

journal_volume

80

pub_type

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