Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter

Michio Hirano, Justo Garcia-de-Yebenes, Alison C. Jones, Ichizo Nishino, Salvatore DiMauro, José R. Carlo, Adam N. Bender, Angelica F. Hahn, Larry M. Salberg, Daniel E. Weeks, Torbjoern G. Nygaard

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Abstract

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome is a rare, multisystem disorder characterized clinically by ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, leukoencephalopathy, thin body habitus, and myopathy. Laboratory studies reveal defects of oxidative-phosphorylation and multiple mtDNA deletions frequently in skeletal muscle. We studied four ethnically distinct families affected with this apparently autosomal recessive disorder. Probands from each family were shown, by Southern blot, to have multiple mtDNA deletions in skeletal muscle. We mapped the MNGIE locus to 22q13.32-qter, distal to D22S1161, with a maximum two-point LOD score of 6.80 at locus D22S526. Cosegregation of MNGIE with a single chromosomal region in families with diverse ethnic backgrounds suggests that we have mapped an important locus for this disorder. We found no evidence to implicate three candidate genes in this region, by using direct sequence analysis for DNA helicase II and by assaying enzyme activities for arylsulfatase A and carnitine palmitoyltransferase.

Original languageEnglish (US)
Pages (from-to)526-533
Number of pages8
JournalAmerican Journal of Human Genetics
Volume63
Issue number2
DOIs
StatePublished - Aug 1998
Externally publishedYes

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Mitochondrial Encephalomyopathies
Chromosomes
Mitochondrial DNA
Skeletal Muscle
Chronic Progressive External Ophthalmoplegia
Cerebroside-Sulfatase
DNA Helicases
Carnitine O-Palmitoyltransferase
Leukoencephalopathies
Oxidative Phosphorylation
Muscular Diseases
Southern Blotting
Sequence Analysis
Enzymes
Genes

ASJC Scopus subject areas

  • Genetics

Cite this

Hirano, M., Garcia-de-Yebenes, J., Jones, A. C., Nishino, I., DiMauro, S., Carlo, J. R., ... Nygaard, T. G. (1998). Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter. American Journal of Human Genetics, 63(2), 526-533. https://doi.org/10.1086/301979

Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter. / Hirano, Michio; Garcia-de-Yebenes, Justo; Jones, Alison C.; Nishino, Ichizo; DiMauro, Salvatore; Carlo, José R.; Bender, Adam N.; Hahn, Angelica F.; Salberg, Larry M.; Weeks, Daniel E.; Nygaard, Torbjoern G.

In: American Journal of Human Genetics, Vol. 63, No. 2, 08.1998, p. 526-533.

Research output: Contribution to journalArticle

Hirano, M, Garcia-de-Yebenes, J, Jones, AC, Nishino, I, DiMauro, S, Carlo, JR, Bender, AN, Hahn, AF, Salberg, LM, Weeks, DE & Nygaard, TG 1998, 'Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter', American Journal of Human Genetics, vol. 63, no. 2, pp. 526-533. https://doi.org/10.1086/301979
Hirano M, Garcia-de-Yebenes J, Jones AC, Nishino I, DiMauro S, Carlo JR et al. Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter. American Journal of Human Genetics. 1998 Aug;63(2):526-533. https://doi.org/10.1086/301979
Hirano, Michio ; Garcia-de-Yebenes, Justo ; Jones, Alison C. ; Nishino, Ichizo ; DiMauro, Salvatore ; Carlo, José R. ; Bender, Adam N. ; Hahn, Angelica F. ; Salberg, Larry M. ; Weeks, Daniel E. ; Nygaard, Torbjoern G. / Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter. In: American Journal of Human Genetics. 1998 ; Vol. 63, No. 2. pp. 526-533.
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