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. 1998 Dec;63(6):1732–1742. doi: 10.1086/302166

Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31.

H Feit 1, A Silbergleit 1, L B Schneider 1, J A Gutierrez 1, R P Fitoussi 1, C Réyès 1, G A Rouleau 1, B Brais 1, C E Jackson 1, J S Beckmann 1, E Seboun 1
PMCID: PMC1377645  PMID: 9837826

Abstract

Distal myopathy refers to a heterogeneous group of disorders in which the initial manifestations are weakness and atrophy of the hands and feet. We report a family segregating an autosomal dominant distal myopathy, with multiple affected individuals in whom vocal cord and pharyngeal weakness may accompany the distal myopathy, without involvement of the ocular muscles. To our knowledge, this pedigree displays a distinct distal myopathy with the added features of pharyngeal and vocal cord dysfunction (VCPDM) that has not been previously reported. We mapped the MPD2 gene for VCPDM to chromosome 5q within a 12-cM linkage interval between markers D5S458 and D5S1972 in a large pedigree (a maximum LOD score of 12.94 at a recombination fraction of 0 for D5S393) and combined genome screening and DNA pooling successfully adapted to fluorescent markers. This technique provides for the possibility of fully automated genome scans.

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Selected References

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  1. Bashir R., Strachan T., Keers S., Stephenson A., Mahjneh I., Marconi G., Nashef L., Bushby K. M. A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Hum Mol Genet. 1994 Mar;3(3):455–457. doi: 10.1093/hmg/3.3.455. [DOI] [PubMed] [Google Scholar]
  2. Bejaoui K., Hirabayashi K., Hentati F., Haines J. L., Ben Hamida C., Belal S., Miller R. G., McKenna-Yasek D., Weissenbach J., Rowland L. P. Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14. Neurology. 1995 Apr;45(4):768–772. doi: 10.1212/wnl.45.4.768. [DOI] [PubMed] [Google Scholar]
  3. Brais B., Bouchard J. P., Xie Y. G., Rochefort D. L., Chrétien N., Tomé F. M., Lafrenière R. G., Rommens J. M., Uyama E., Nohira O. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet. 1998 Feb;18(2):164–167. doi: 10.1038/ng0298-164. [DOI] [PubMed] [Google Scholar]
  4. Brugada R., Tapscott T., Czernuszewicz G. Z., Marian A. J., Iglesias A., Mont L., Brugada J., Girona J., Domingo A., Bachinski L. L. Identification of a genetic locus for familial atrial fibrillation. N Engl J Med. 1997 Mar 27;336(13):905–911. doi: 10.1056/NEJM199703273361302. [DOI] [PubMed] [Google Scholar]
  5. Carmi R., Rokhlina T., Kwitek-Black A. E., Elbedour K., Nishimura D., Stone E. M., Sheffield V. C. Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. Hum Mol Genet. 1995 Jan;4(1):9–13. doi: 10.1093/hmg/4.1.9. [DOI] [PubMed] [Google Scholar]
  6. Damji K. F., Gallione C. J., Allingham R. R., Slotterbeck B., Guttmacher A. E., Pasyk K. A., Vance J. M., Pericak-Vance M. A., Speer M. C., Marchuk D. A. Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease. Hum Genet. 1998 Feb;102(2):207–212. doi: 10.1007/s004390050679. [DOI] [PubMed] [Google Scholar]
  7. Dib C., Fauré S., Fizames C., Samson D., Drouot N., Vignal A., Millasseau P., Marc S., Hazan J., Seboun E. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature. 1996 Mar 14;380(6570):152–154. doi: 10.1038/380152a0. [DOI] [PubMed] [Google Scholar]
  8. Haravuori H., Mäkelä-Bengs P., Udd B., Partanen J., Pulkkinen L., Somer H., Peltonen L. Assignment of the tibial muscular dystrophy locus to chromosome 2q31. Am J Hum Genet. 1998 Mar;62(3):620–626. doi: 10.1086/301752. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Ikeuchi T., Asaka T., Saito M., Tanaka H., Higuchi S., Tanaka K., Saida K., Uyama E., Mizusawa H., Fukuhara N. Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9. Ann Neurol. 1997 Apr;41(4):432–437. doi: 10.1002/ana.410410405. [DOI] [PubMed] [Google Scholar]
  10. Illarioshkin S. N., Ivanova-Smolenskaya I. A., Tanaka H., Vereshchagin N. V., Markova E. D., Poleshchuk V. V., Lozhnikova S. M., Sukhorukov V. S., Limborska S. A., Slominsky P. A. Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy. Brain. 1996 Dec;119(Pt 6):1895–1909. doi: 10.1093/brain/119.6.1895. [DOI] [PubMed] [Google Scholar]
  11. Kruglyak L., Daly M. J., Reeve-Daly M. P., Lander E. S. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet. 1996 Jun;58(6):1347–1363. [PMC free article] [PubMed] [Google Scholar]
  12. Laing N. G., Laing B. A., Meredith C., Wilton S. D., Robbins P., Honeyman K., Dorosz S., Kozman H., Mastaglia F. L., Kakulas B. A. Autosomal dominant distal myopathy: linkage to chromosome 14. Am J Hum Genet. 1995 Feb;56(2):422–427. [PMC free article] [PubMed] [Google Scholar]
  13. Nielsen M. S., Petersen C. M., Gliemann J., Madsen P. Cloning and sequencing of a human cDNA encoding a putative transcription factor containing a bromodomain. Biochim Biophys Acta. 1996 Apr 10;1306(1):14–16. doi: 10.1016/0167-4781(95)00239-1. [DOI] [PubMed] [Google Scholar]
  14. Nigro V., de Sá Moreira E., Piluso G., Vainzof M., Belsito A., Politano L., Puca A. A., Passos-Bueno M. R., Zatz M. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nat Genet. 1996 Oct;14(2):195–198. doi: 10.1038/ng1096-195. [DOI] [PubMed] [Google Scholar]
  15. Ott J. Computer-simulation methods in human linkage analysis. Proc Natl Acad Sci U S A. 1989 Jun;86(11):4175–4178. doi: 10.1073/pnas.86.11.4175. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Passos-Bueno M. R., Moreira E. S., Vainzof M., Marie S. K., Zatz M. Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD. Hum Mol Genet. 1996 Jun;5(6):815–820. doi: 10.1093/hmg/5.6.815. [DOI] [PubMed] [Google Scholar]
  17. Perlin M. W., Lancia G., Ng S. K. Toward fully automated genotyping: genotyping microsatellite markers by deconvolution. Am J Hum Genet. 1995 Nov;57(5):1199–1210. [PMC free article] [PubMed] [Google Scholar]
  18. Schäffer A. A. Faster linkage analysis computations for pedigrees with loops or unused alleles. Hum Hered. 1996 Jul-Aug;46(4):226–235. doi: 10.1159/000154358. [DOI] [PubMed] [Google Scholar]
  19. Sheffield V. C., Carmi R., Kwitek-Black A., Rokhlina T., Nishimura D., Duyk G. M., Elbedour K., Sunden S. L., Stone E. M. Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. Hum Mol Genet. 1994 Aug;3(8):1331–1335. doi: 10.1093/hmg/3.8.1331. [DOI] [PubMed] [Google Scholar]
  20. Speer M. C., Gilchrist J. M., Stajich J. M., Gaskell P. C., Westbrook C. A., Horrigan S. K., Bartoloni L., Yamaoka L. H., Scott W. K., Pericak-Vance M. A. Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy. J Med Genet. 1998 Apr;35(4):305–308. doi: 10.1136/jmg.35.4.305. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Vahava O., Morell R., Lynch E. D., Weiss S., Kagan M. E., Ahituv N., Morrow J. E., Lee M. K., Skvorak A. B., Morton C. C. Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Science. 1998 Mar 20;279(5358):1950–1954. doi: 10.1126/science.279.5358.1950. [DOI] [PubMed] [Google Scholar]
  22. Weiler T., Greenberg C. R., Nylen E., Halliday W., Morgan K., Eggertson D., Wrogemann K. Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. Am J Hum Genet. 1996 Oct;59(4):872–878. [PMC free article] [PubMed] [Google Scholar]
  23. Weissenbach J., Gyapay G., Dib C., Vignal A., Morissette J., Millasseau P., Vaysseix G., Lathrop M. A second-generation linkage map of the human genome. Nature. 1992 Oct 29;359(6398):794–801. doi: 10.1038/359794a0. [DOI] [PubMed] [Google Scholar]
  24. Young I. D., Harper P. S. Hereditary distal spinal muscular atrophy with vocal cord paralysis. J Neurol Neurosurg Psychiatry. 1980 May;43(5):413–418. doi: 10.1136/jnnp.43.5.413. [DOI] [PMC free article] [PubMed] [Google Scholar]

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