Background:
The genetic Neurological disorders are both clinically and genetically heterogeneous. Among them Neurodevelopmental disorder with hypotonia, neuropathy, and deafness (NEDHND, OMIM #617519) is a rare autosomal recessive genetic syndromic condition. This study is aimed to characterize the underlying genetic cause of mutisystemic dysfunction in a single consanguineous family of Saudi origin.
Methods:
This study investigated the causal genetic changes in the affected family member with neurological issue and deafness issues along with muscular weakness using unbiased whole genome sequencing.
Results:
The genetic investigation uncovered a novel missense change (c.5501G>A; p.Arg1834Gln) in the exon 26 Of SPTBN4 gene located on 19q13.2, which segregated in accordance with the autosomal recessive inheritance model.
Conclusion:
This study establishes a genotype-phenotype correlation for the Neurodevelopmental disorder with hypotonia, neuropathy, and deafness (NEDHND, OMIM #617519), and reinforce the concept that variants of uncertain significance (UVS) including the one found in this report holds yet to be fully uncovered role in influencing the gene specific phenotypes for a particular genetic condition.
Key words: Novel Mutation, SPTBN4, NEDHND, Syndromic neurological disorder.
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