Novel Hemizygous Missense Variant of Spermine Synthase ( < b > < i > SMS < /i > < /b > ) Gene Causes Snyder-Robinson Syndrome in a Four-Year-Old Boy

We report a case of SRS with a hemizygous missense variant in theSMS gene,c.334C#x3e;G (p.Pro112Ala), in a 4-year-old boy, who initially developed hypotonia, delayed motor skills, and subsequently epilepsy. This variant inSMS was found to be de novo. To the best of our knowledge, this novelSMS gene variant has never been previously reported in disease-related variation databases, such as ClinVar or HGMD.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research