Universität zu Köln

Moosa, Shahida, Chentli, Farida, Altmuller, Janine, Bogershausen, Nina, Nurnberg, Peter, Yigit, Gokhan, Li, Yun and Wollnik, Bernd ORCID: 0000-0003-2589-0364 (2022). Genomic basis of syndromic short stature in an Algerian patient cohort. Am. J. Med. Genet. A, 188 (2). S. 606 - 613. HOBOKEN: WILEY. ISSN 1552-4833

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Abstract

Short stature is one of the most common reasons for a referral to the pediatric endocrinology clinic. Thousands of patients with short stature are assessed annually at the Department of Endocrine and Metabolic Diseases (DEMD) at Bab el Oued University Hospital in Algiers, Algeria. However, diagnostic rates in patients with syndromic short stature are not optimal due to the unavailability of next generation sequencing (NGS) technology. Here, we enrolled 10 Algerian patients with syndromic short stature in a pilot study to test the impact of genetic and genomic approaches in the DEMD. Using a combination of two different NGS modalities, namely exome sequencing and the Mendeliome (TruSight (TM) One sequencing panel) along with single gene testing, we were able to establish a confirmed molecular diagnosis in 7/10 patients (70%) and to identify strong likely disease-causing variants in a further two patients. Novel variants in NPR2 and VPS13B were identified. Using copy number variation analysis on the exome data, we also identified a de novo deletion of the short arm of chromosome X. These definitive diagnoses have made a substantial impact on patient treatment, management and genetic counseling. Genomic testing has the ability to transform clinical practice, and is an essential diagnostic tool in any tertiary pediatric clinic, particularly in resource limited settings.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Moosa, Shahida UNSPECIFIED UNSPECIFIED UNSPECIFIED Chentli, Farida UNSPECIFIED UNSPECIFIED UNSPECIFIED Altmuller, Janine UNSPECIFIED UNSPECIFIED UNSPECIFIED Bogershausen, Nina UNSPECIFIED UNSPECIFIED UNSPECIFIED Nurnberg, Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Yigit, Gokhan UNSPECIFIED UNSPECIFIED UNSPECIFIED Li, Yun UNSPECIFIED UNSPECIFIED UNSPECIFIED Wollnik, Bernd UNSPECIFIED orcid.org/0000-0003-2589-0364 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-585002
DOI:	10.1002/ajmg.a.62532
Journal or Publication Title:	Am. J. Med. Genet. A
Volume:	188
Number:	2
Page Range:	S. 606 - 613
Date:	2022
Publisher:	WILEY
Place of Publication:	HOBOKEN
ISSN:	1552-4833
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/58500