Open AccessNovel Hemizygous Missense Variant of Spermine Synthase (<b><i>SMS</i></b>) Gene Causes Snyder-Robinson Syndrome in a Four-Year-Old Boy
Author(s) -
Stella Mouskou,
Adamantios Katerelos,
Artemis Doulgeraki,
Sofia Leka-Emiri,
Emmanouil Manolakos,
Ioannis Papoulidis,
Athina Ververi,
George Vartzelis,
Anastasia Korona,
Sotiria Mastroyanni,
Konstantinos Voudris
Publication year - 2021
Publication title -
molecular syndromology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.609
H-Index - 36
eISSN - 1661-8777
pISSN - 1661-8769
DOI - 10.1159/000514122
Subject(s) - hypotonia , medicine , missense mutation , intellectual disability , psychomotor retardation , epilepsy , kyphoscoliosis , pediatrics , genetics , scoliosis , gene , mutation , biology , pathology , surgery , psychiatry , alternative medicine
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 SMS 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 SMS was found to be de novo. To the best of our knowledge, this novel SMS gene variant has never been previously reported in disease-related variation databases, such as ClinVar or HGMD.