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Biallelic variants in consanguineous families causing neurodevelopmental disorders

T. Froukh Eman Albsoul
Jul 2026 · Exploration of Neuroprotective Therapy · 0 citations · 45 references

Abstract

Aim: Identify new genetic variants linked to neurodevelopmental disorders to be used in routine genetic diagnostics. Methods: Whole exome sequencing (WES) was used for ten unrelated families from Jordan characterized by one or two affected members with neurodevelopmental disorders (NDDs), in which the parents are consanguineous in nine families. Results: Ten variants are identified in this study; one variant per family. Eight variants are identified by cross-link with the pathogenic variants in ClinVar and in our in-house database, and two variants are identified for the first time. Nine of the total identified variants are homozygous in the nine consanguineous families and one variant is heterozygous in the non-consanguineous family. Three of the identified variants were previously reported in unrelated Jordanian families compared to the families in this study. These three variants are NM_018359.5:c.344T>A;p.Val115Glu in the gene UFSP2, NM_000487.6:c.256C>G;p.Arg86Gly in the gene ARSA and NM_017882.3:c.144G>A;p.Trp48* in the gene CLN6. The variants that are identified for the first time are splicing variants; splice donor variant NM_000433.4:c.366+1G>C in the gene NCF2 and splice acceptor variant NM_000191.3:c.498-1G>A in the gene HMGCL. Conclusions: The results of this study stress the importance of continuous research using WES for NDDs in Jordan to identify new variants.

DOI Semantic Scholar
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