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impe0096p80 | GH and IGFs | IMPE2023

p.Gln207Arg GH1 allelic variant associated to GH deficiency and specific intronic region may be a modulator of GH secretion

Sasson Tessa , Dauber Andrew , Jorge Alexander , Pandey Amit , Arnhold Ivo , Carvalho Luciani

Introduction: GH1 was the first gene associated with isolated GH deficiency (IGHD) due to a gene deletion described in 1981. Subsequently, frameshift, homozygous missense and nonsense allelic variants, and splice site allelic variants causing GHD were reported.Aim: Use whole exome sequencing (WES) in the search of variants in known genes and also new genes associated to IGHD and determine the effect of variants....

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p.Gln207Arg GH1 allelic variant associated to GH deficiency and specific intronic region may be a modulator of GH secretion

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