Mild phenotype in two siblings with a missense GHR variant-Reference-Cited by-同舟云学术

Mild phenotype in two siblings with a missense GHR variant

Published:2021-07-01 Issue:10 Volume:34 Page:1349-1354
ISSN:0334-018X
Container-title:Journal of Pediatric Endocrinology and Metabolism
language:en
Short-container-title:

Author:

Sarıkaya Özdemir Behiye¹^ORCID,Çetinkaya Semra¹^ORCID,Güleray Lafcı Naz²^ORCID,Şakar Merve¹^ORCID,Karacan Küçükali Gülin¹^ORCID,Elmaoğullari Selin¹^ORCID,Savaş Erdeve Şenay¹^ORCID

Affiliation:

1. Pediatric Endocrinology Department , Dr. Sami Ulus Obstetrics and Gynecology, Children’s Health and Disease Training and Research Hospital, University of Health Sciences Turkey , Ankara , Turkey

2. Medical Genetics Department , Dr. Sami Ulus Obstetrics and Gynecology, Children’s Health and Disease Training and Research Hospital,University of Health Sciences Turkey , Ankara , Turkey

Abstract

Abstract Objectives Laron syndrome (LS) is a disease caused by growth hormone receptor (GHR) defects. It is characterized by severe postnatal growth retardation and distinctive facial features. Case presentation In this case report, we describe the clinical and biochemical characteristics of two siblings with LS, a sister and a brother, and identify a homozygous c.344A> C (p.Asn115Thr) variant in GHR. The sister was 11 years 9 months old with a height of 127.5 cm (-3.86 SDS), and the brother was 14 years 10 months old with a height of 139 cm (-4.27 SDS). Their phenotype did not have features suggesting classical LS. Conclusion In the current literature, there are three cases with the same missense variant. Our cases differ from them in clinical (higher height SDS, mild dysmorphism including a broad forehead, malar hypoplasia, prominent columella and chin, thick lips) and biochemical characteristics. Here, we present the variable expressivity in the two siblings.

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

https://www.degruyter.com/document/doi/10.1515/jpem-2021-0044/pdf

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