ESPE Abstracts

Background: We report clinical and molecular cytogenetic characterization of a 13-year-7-month-old boy with a Sotos-like phenotype and de novo NFIX deletions and review the literature.

Result: A whole exome sequencing revealed in the present patient with unique clinical phenotypes a de novo frameshift mutation c.570-573delATCA (p.S191Ifs*19) in NFIX gene in 19p13.2.

Discussion: The present case with partially overlapping 19p13 microdeletion share the following features: psychomotor and language delay, intellectual disability, seizures, hypotonia, skeletal anomalies and facial dysmorphism. The haploinsufficincy could be the base for the phenotype -genotype correlation. There are striking genotype-phenotype correlations between Malan syndrome and Marshall-Smith syndrome, Sotos syndrome.