Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.
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Publication year
2008Source
Neurogenetics, 9, 3, (2008), pp. 183-90ISSN
Publication type
Article / Letter to editor
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Organization
Human Genetics
Journal title
Neurogenetics
Volume
vol. 9
Issue
iss. 3
Page start
p. 183
Page end
p. 90
Subject
DCN 2: Functional Neurogenomics; IGMD 3: Genomic disorders and inherited multi-system disorders; NCMLS 1: Immunity, infection and tissue repair; UMCN 3.2: Cognitive neurosciencesAbstract
Creatine transporter deficiency is an X-linked mental retardation disorder caused by mutations in the creatine transporter gene, SLC6A8. In a European Mental Retardation Consortium panel of 66 patients, we identified a male with mental retardation, caused by a c.1059_1061delCTT; p.Phe354del mutation in the SLC6A8 gene. With the use of direct DNA sequencing, the mutation was also found in the brother of the proband, but not in their mother. However, by analyzing EDTA blood of the mother with denaturing high-performance liquid chromatography (DHPLC), we could show that the mother displays low-level somatic mosaicism for the three base-pair deletion. This study indicates DHPLC as an important tool in the detection of low-level mosaicism, as does it illustrate the importance of considering somatic and germline mosaicism in the case of apparent de novo mutation.
This item appears in the following Collection(s)
- Academic publications [238441]
- Electronic publications [122544]
- Faculty of Medical Sciences [90373]
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