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Article

High prevalence of SLC6A8 deficiency in X-linked mental retardation.

American journal of human genetics - 1 Jul 2004

Rosenberg Efraim H, Almeida Ligia S, Kleefstra Tjitske, deGrauw Rose S, Yntema Helger G, Bahi Nadia, Moraine Claude, Ropers Hans-Hilger, Fryns Jean-Pierre, deGrauw Ton J, Jakobs Cornelis, Salomons Gajja S

Abstract excerpt

A novel X-linked mental retardation (XLMR) syndrome was recently identified, resulting from creatine deficiency in the brain caused by mutations in the creatine transporter gene, SLC6A8. We have studied the prevalence of SLC6A8 mutations in a panel of 290 patients with nonsyndromic XLMR archived by the European XLMR Consortium. The full-length open reading frame and splice sites of the SLC6A8 gene were...

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Share to Chromosomes, Human, X
Share to Creatine

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Linkage

Share to Membrane Transport Proteins

Share to Nerve Tissue Proteins

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Share to Sequence Homology, Amino Acid

Share to X-Linked Intellectual Disability

Source

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Identifiers

PMID: 15154114
DOI: 10.1086/422102
PMCID: PMC1182013

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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