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Genomic basis of syndromic short stature in an Algerian patient cohort

Item Type:Article
Title:Genomic basis of syndromic short stature in an Algerian patient cohort
Creators Name:Moosa, S. and Chentli, F. and Altmüller, J. and Bögershausen, N. and Nürnberg, P. and Yigit, G. and Li, Y. and Wollnik, B.
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™ 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.
Keywords:Algeria, NGS, Pediatric Endocrinology, Syndromic Short Stature
Source:American Journal of Medical Genetics A
Page Range:606-612
Date:February 2022
Official Publication:https://doi.org/10.1002/ajmg.a.62532
PubMed:View item in PubMed

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