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The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy
Year:
2001
Source of publication :
Nature Genetics
Authors :
Shemesh, Moshe
;
.
Volume :
29
Co-Authors:
Eisenberg, I., Unit for Molecular Biology, Hadassah, Hospital, Hebrew University-Hadassah Medical School, Jerusalem, Israel
Avidan, N., Department of Molecular Genetics and Crown Genome Center, Weizmann Institute of Science, Rehovot, Israel
Potikha, T., Unit for Molecular Biology, Hadassah, Hospital, Hebrew University-Hadassah Medical School, Jerusalem, Israel
Hochner, H., Unit for Molecular Biology, Hadassah, Hospital, Hebrew University-Hadassah Medical School, Jerusalem, Israel
Chen, M., Department of Molecular Genetics and Crown Genome Center, Weizmann Institute of Science, Rehovot, Israel
Olender, T., Department of Molecular Genetics and Crown Genome Center, Weizmann Institute of Science, Rehovot, Israel
Barash, M., Unit for Molecular Biology, Hadassah, Hospital, Hebrew University-Hadassah Medical School, Jerusalem, Israel
Shemesh, M., Unit for Molecular Biology, Hadassah, Hospital, Hebrew University-Hadassah Medical School, Jerusalem, Israel
Sadeh, M., Department of Neurology, Wolfson Hospital, Holon, Israel
Grabov-Nardini, G., Unit for Molecular Biology, Hadassah, Hospital, Hebrew University-Hadassah Medical School, Jerusalem, Israel
Shmilevich, I., Unit for Molecular Biology, Hadassah, Hospital, Hebrew University-Hadassah Medical School, Jerusalem, Israel
Friedmann, A., Unit for Molecular Biology, Hadassah, Hospital, Hebrew University-Hadassah Medical School, Jerusalem, Israel
Karpati, G., Department of Neurology and Neurosurgery, Montreal Neurological Institute, Montreal, Que., Canada
Bradley, W.G., Department of Neurology, University of Miami, School of Medicine, Miami, FL, United States
Baumbach, L., Department of Pediatrics, University of Miami, School of Medicine, Miami, FL, United States
Lancet, D., Department of Molecular Genetics and Crown Genome Center, Weizmann Institute of Science, Rehovot, Israel
Asher, E.B., Department of Molecular Genetics and Crown Genome Center, Weizmann Institute of Science, Rehovot, Israel
Beckmann, J.S., Department of Molecular Genetics and Crown Genome Center, Weizmann Institute of Science, Rehovot, Israel
Argov, Z., Department of Neurology, Hadassah Hospital, Hebrew University-Hadassah Medical School, Jerusalem, Israel
Mitrani-Rosenbaum, S., Unit for Molecular Biology, Hadassah, Hospital, Hebrew University-Hadassah Medical School, Jerusalem, Israel
Facilitators :
From page:
83
To page:
87
(
Total pages:
5
)
Abstract:
Hereditary inclusion body myopathy (HIBM; OMIM 600737) is a unique group of neuromuscular disorders characterized by adult onset, slowly progressive distal and proximal weakness and a typical muscle pathology including rimmed vacuoles and filamentous inclusions. The autosomal recessive form described in Jews of Persian descent is the HIBM prototype. This myopathy affects mainly leg muscles, but with an unusual distribution that spares the quadriceps. This particular pattern of weakness distribution, termed quadriceps-sparing myopathy (QSM), was later found in Jews originating from other Middle Eastern countries as well as in non-Jews. We previously localized the gene causing HIBM in Middle Eastern Jews on chromosome 9p12-13 (ref. 5) within a genomic interval of about 700 kb (ref. 6). Haplotype analysis around the HIBM gene region of 104 affected people from 47 Middle Eastern families indicates one unique ancestral founder chromosome in this community. By contrast, single non-Jewish families from India, Georgia (USA) and the Bahamas, with QSM and linkage to the same 9p12-13 region, show three distinct haplotypes. After excluding other potential candidate genes, we eventually identified mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene in the HIBM families: all patients from Middle Eastern descent shared a single homozygous missense mutation, whereas distinct compound heterozygotes were identified in affected individuals of families of other ethnic origins. Our findings indicate that GNE is the gene responsible for recessive HIBM.
Note:
Related Files :
chromosome mapping
DNA
Female
Genes, Recessive
Male
mutation
n acetylmannosamine kinase
Show More
Related Content
More details
DOI :
10.1038/ng718
Article number:
Affiliations:
Database:
Scopus
Publication Type:
article
;
.
Language:
English
Editors' remarks:
ID:
22770
Last updated date:
02/03/2022 17:27
Creation date:
16/04/2018 23:54
Scientific Publication
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy
29
Eisenberg, I., Unit for Molecular Biology, Hadassah, Hospital, Hebrew University-Hadassah Medical School, Jerusalem, Israel
Avidan, N., Department of Molecular Genetics and Crown Genome Center, Weizmann Institute of Science, Rehovot, Israel
Potikha, T., Unit for Molecular Biology, Hadassah, Hospital, Hebrew University-Hadassah Medical School, Jerusalem, Israel
Hochner, H., Unit for Molecular Biology, Hadassah, Hospital, Hebrew University-Hadassah Medical School, Jerusalem, Israel
Chen, M., Department of Molecular Genetics and Crown Genome Center, Weizmann Institute of Science, Rehovot, Israel
Olender, T., Department of Molecular Genetics and Crown Genome Center, Weizmann Institute of Science, Rehovot, Israel
Barash, M., Unit for Molecular Biology, Hadassah, Hospital, Hebrew University-Hadassah Medical School, Jerusalem, Israel
Shemesh, M., Unit for Molecular Biology, Hadassah, Hospital, Hebrew University-Hadassah Medical School, Jerusalem, Israel
Sadeh, M., Department of Neurology, Wolfson Hospital, Holon, Israel
Grabov-Nardini, G., Unit for Molecular Biology, Hadassah, Hospital, Hebrew University-Hadassah Medical School, Jerusalem, Israel
Shmilevich, I., Unit for Molecular Biology, Hadassah, Hospital, Hebrew University-Hadassah Medical School, Jerusalem, Israel
Friedmann, A., Unit for Molecular Biology, Hadassah, Hospital, Hebrew University-Hadassah Medical School, Jerusalem, Israel
Karpati, G., Department of Neurology and Neurosurgery, Montreal Neurological Institute, Montreal, Que., Canada
Bradley, W.G., Department of Neurology, University of Miami, School of Medicine, Miami, FL, United States
Baumbach, L., Department of Pediatrics, University of Miami, School of Medicine, Miami, FL, United States
Lancet, D., Department of Molecular Genetics and Crown Genome Center, Weizmann Institute of Science, Rehovot, Israel
Asher, E.B., Department of Molecular Genetics and Crown Genome Center, Weizmann Institute of Science, Rehovot, Israel
Beckmann, J.S., Department of Molecular Genetics and Crown Genome Center, Weizmann Institute of Science, Rehovot, Israel
Argov, Z., Department of Neurology, Hadassah Hospital, Hebrew University-Hadassah Medical School, Jerusalem, Israel
Mitrani-Rosenbaum, S., Unit for Molecular Biology, Hadassah, Hospital, Hebrew University-Hadassah Medical School, Jerusalem, Israel
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy
Hereditary inclusion body myopathy (HIBM; OMIM 600737) is a unique group of neuromuscular disorders characterized by adult onset, slowly progressive distal and proximal weakness and a typical muscle pathology including rimmed vacuoles and filamentous inclusions. The autosomal recessive form described in Jews of Persian descent is the HIBM prototype. This myopathy affects mainly leg muscles, but with an unusual distribution that spares the quadriceps. This particular pattern of weakness distribution, termed quadriceps-sparing myopathy (QSM), was later found in Jews originating from other Middle Eastern countries as well as in non-Jews. We previously localized the gene causing HIBM in Middle Eastern Jews on chromosome 9p12-13 (ref. 5) within a genomic interval of about 700 kb (ref. 6). Haplotype analysis around the HIBM gene region of 104 affected people from 47 Middle Eastern families indicates one unique ancestral founder chromosome in this community. By contrast, single non-Jewish families from India, Georgia (USA) and the Bahamas, with QSM and linkage to the same 9p12-13 region, show three distinct haplotypes. After excluding other potential candidate genes, we eventually identified mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene in the HIBM families: all patients from Middle Eastern descent shared a single homozygous missense mutation, whereas distinct compound heterozygotes were identified in affected individuals of families of other ethnic origins. Our findings indicate that GNE is the gene responsible for recessive HIBM.
Scientific Publication
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