Novel Hemizygous Missense Variant of Spermine Synthase () Gene Causes Snyder-Robinson Syndrome in a Four-Year-Old Boy

Overview

Journal Mol Syndromol

Date 2021 Jun 28

PMID 34177437

Authors

Stella Mouskou

Adamantios Katerelos

Artemis Doulgeraki

Sofia Leka-Emiri

Emmanouil Manolakos

Ioannis Papoulidis

Athina Ververi

Georgios Vartzelis

Anastasia Korona

Sotiria Mastroyanni

Konstantinos Voudris

Affiliations

Soon will be listed here.

Abstract

Snyder-Robinson syndrome (SRS) is an extremely rare X-linked intellectual disability syndrome (MRXSSR; MIM #309583). The main clinical features of SRS include psychomotor delay, hypotonia, and asthenic-type body habitus - reduced body weight and bone abnormalities (osteoporosis, fractures, kyphoscoliosis). We report a case of SRS with a hemizygous missense variant in the gene,c.334C>G (p.Pro112Ala), in a 4-year-old boy, who initially developed hypotonia, delayed motor skills, and subsequently epilepsy. This variant in was found to be de novo. To the best of our knowledge, this novel gene variant has never been previously reported in disease-related variation databases, such as ClinVar or HGMD.

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