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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis
Neurogenetics, Volume 10, No. 1, Year 2009
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Description
Neuronal ceroid lipofuscinoses (NCL) are lysosomal storage disorders and constitute the most common group of progressive neurodegenerative diseases in childhood. Most NCLs are inherited in a recessive manner and are clinically characterised by a variable age at onset, epileptic seizures, psychomotor decline, visual impairment and premature death. To date, eight causative genes have been identified to underlie various clinical forms of NCL. We performed a genome-wide linkage analysis followed by sequencing the recently described NCL gene MFSD8 in three affected and three unaffected members of a consanguineous Egyptian family with an autosomal recessively inherited progressive neurodegenerative disorder. The clinical picture of the patients was compatible with a late infantile NCL (LINCL); however, impairment of the visual system was not a cardinal symptom in the respective family. By linkage analysis, we identified two putative loci on chromosome 1p36.11-p35.1 and 4q28.1-q28.2. The latter locus (4q28.1-q28.2) contained the MFSD8 gene, comprising a novel homozygous missense mutation in exon 5 (c.362a>g /p.Tyr121Cys), which segregated with the disease in the three affected sibs. We describe a novel mutation in the previously identified MFSD8 gene in a family with a common phenotype of LINCL, but no clinical report of vision loss. Our results enlarge the mutational and perhaps the nosological spectrum of one of the recently identified subtypes of NCL, called CLN7. © 2008 Springer-Verlag.
Authors & Co-Authors
Stögmann, Elisabeth
Austria, Vienna
Allgemeines Krankenhaus Wien
El Tawil, S.
Egypt, Cairo
Ain Shams University
Wagenstaller, J.
Germany, Oberschleissheim
Helmholtz Center Munich German Research Center for Environmental Health
Gaber, Ahmed Abdelmonem
Egypt, Cairo
Ain Shams University
Edris, S. A.
Egypt, Cairo
Ain Shams University
Abdelhady, Ayman A.
Egypt, Cairo
Ain Shams University
Assem-Hilger, E.
Austria, Vienna
Allgemeines Krankenhaus Wien
Leutmezer, F.
Austria, Vienna
Allgemeines Krankenhaus Wien
Bonelli, S.
Austria, Vienna
Allgemeines Krankenhaus Wien
Baumgartner, C.
Austria, Vienna
Allgemeines Krankenhaus Wien
Zimprich, Fritz
Austria, Vienna
Allgemeines Krankenhaus Wien
Strom, Tim Matthias
Germany, Oberschleissheim
Helmholtz Center Munich German Research Center for Environmental Health
Germany, Munich
Technische Universität München
Zimprich, Alexander
Austria, Vienna
Allgemeines Krankenhaus Wien
Statistics
Citations: 34
Authors: 13
Affiliations: 4
Identifiers
Doi:
10.1007/s10048-008-0153-1
ISSN:
13646745
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health