Ontology highlight
ABSTRACT:
SUBMITTER: Hahn KA
PROVIDER: S-EPMC447610 | biostudies-literature | 2002 May
REPOSITORIES: biostudies-literature
Hahn Kimberly A KA Salomons Gajja S GS Tackels-Horne Darci D Wood Tim C TC Taylor Harold A HA Schroer Richard J RJ Lubs Herbert A HA Jakobs Cornelis C Olson Rick L RL Holden Kenton R KR Stevenson Roger E RE Schwartz Charles E CE
American journal of human genetics 20020315 5
A family with X-linked mental retardation characterized by severe mental retardation, speech and behavioral abnormalities, and seizures in affected male patients has been found to have a G1141C transversion in the creatine-transporter gene SLC6A8. This mutation results in a glycine being replaced by an arginine (G381R) and alternative splicing, since the G-->C transversion occurs at the -1 position of the 5' splice junction of intron 7. Two female relatives who are heterozygous for the SLC6A8 mu ...[more]