Document Detail

Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.
MedLine Citation:
PMID:  18350323     Owner:  NLM     Status:  MEDLINE    
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.
Ofir T Betsalel; Jiddeke M van de Kamp; Cristina Martínez-Muñoz; Efraim H Rosenberg; Arjan P M de Brouwer; Petra J W Pouwels; Marjo S van der Knaap; Grazia M S Mancini; Cornelis Jakobs; Ben C J Hamel; Gajja S Salomons
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2008-03-19
Journal Detail:
Title:  Neurogenetics     Volume:  9     ISSN:  1364-6753     ISO Abbreviation:  Neurogenetics     Publication Date:  2008 Jul 
Date Detail:
Created Date:  2008-06-27     Completed Date:  2009-06-15     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9709714     Medline TA:  Neurogenetics     Country:  United States    
Other Details:
Languages:  eng     Pagination:  183-90     Citation Subset:  IM    
Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.
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MeSH Terms
Amino Acid Sequence
Base Sequence
Cells, Cultured
Chromatography, High Pressure Liquid
DNA / blood,  genetics
DNA Mutational Analysis
Genes, X-Linked
Germ-Line Mutation*
Mental Retardation, X-Linked / blood,  genetics*
Molecular Sequence Data
Nerve Tissue Proteins / blood,  deficiency*,  genetics*
Nucleic Acid Denaturation
Plasma Membrane Neurotransmitter Transport Proteins / blood,  deficiency*,  genetics*
Sequence Deletion
Sequence Homology, Amino Acid
Reg. No./Substance:
0/Nerve Tissue Proteins; 0/Plasma Membrane Neurotransmitter Transport Proteins; 0/SLC6A8 protein, human; 9007-49-2/DNA

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