ESHG 2024 Poster: Novel bi-allelic missense SVBP variant causes neurodevelopmental disorder with microcephaly


Small vasohibin-binding protein (SVBP) functions as a chaperone and a co-factor for vasohibin 1 and 2 (VASH1 and 2). VASH1-SVBP and VASH2-SVBP complexes exhibit specific Tyr/Phe carboxypeptidase activity on microtubules. Recent literature has associated biallelic truncating variants in SVBP gene with neurodevelopmental disorders in five unrelated families. Here we report four patients from two unrelated families with similar neurodevelopmental disorders.

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