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Article

A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.

Human molecular genetics - 15 Sept 2013

Zhang Zhe, Norris Joy, Kalscheuer Vera, Wood Tim, Wang Lin, Schwartz Charles, Alexov Emil, Van Esch Hilde

Abstract excerpt

Snyder-Robinson syndrome (SRS, OMIM: 309583) is an X-linked intellectual disability (XLID) syndrome, characterized by a collection of clinical features including facial asymmetry, marfanoid habitus, hypertonia, osteoporosis and unsteady gait. It is caused by a significant decrease or loss of spermine synthase (SMS) activity. Here, we report a new missense mutation, p.Y328C (c.1084A>G), in SMS in a family with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23696453
DOI: 10.1093/hmg/ddt229
PMCID: PMC3749864

Genes

SMS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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