A rare cause of intellectual disability: Novel mutations of NFIX gene in two patients with clinical features of Marshall-Smith syndrome and Malan syndrome

In this study, we presented the clinical and molecular findings of two different patients with MS and MSS as a rare cause of intellectual disability and reported two novel variants in the NFIX gene. NFIX gene sequencing revealed a novel heterozygous c.1287delC (p.G430Vfs*34) mutation in patient 1 whose clinical diagnosis was compatible with Marshall-Smith syndrome, and in the second patient, physical features consistent with Malan syndrome, was detected a heterozygous one nucleotide duplication, c.303dupC (pCys102LeufsTer17).PMID:37336770 | DOI:10.1002/jdn.10280

Source: International Journal of Developmental Neuroscience - June 19, 2023 Category: Neuroscience Authors: Ceren Y ılmaz Uzman Semra G ürsoy Filiz Hazan Source Type: research