Abstract Search

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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impe0096fc4.3 | Growth and Syndromes | IMPE2023

Diagnostic yield of a multigene approach in children with short stature of unknown cause: It is time to remove the term idiopathic!

Andrade Nathalia , Funari Mariana , Malaquias Alexsandra , Dantas Naiara , Rezende Raissa , Cellin Laurana , Homma Thais , Lucheze Bruna , Lerario Antonio , Arnhold Ivo , Vasques Gabriela , Jorge Alexander

Introduction: The genetic factors are frequently implicated in the growth impairment of short stature (SS) children, whether they are syndromic or apparently healthy. However, the investigation recommended by the consensus fails to establish the etiology in most cases. The difficulty to search for candidate genes increases the importance of using a hypothesis-free approach as whole exome sequencing (WES) for these children. Objective: To determine the diagnost...

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IMPE Abstracts

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

Diagnostic yield of a multigene approach in children with short stature of unknown cause: It is time to remove the term idiopathic!

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