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. 1994 Sep;71(3):221–227. doi: 10.1136/adc.71.3.221

De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1).

P E Jardine 1, M C Koch 1, P W Lunt 1, J Maynard 1, K D Bathke 1, P S Harper 1, M Upadhyaya 1
PMCID: PMC1029975  PMID: 7979495

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant condition with variable age of onset and severity. Identification of a de novo DNA fragment by probe p13E-11 (D4F104S1) established the diagnosis of new mutation FSHD in 27 of 31 sporadic cases. The clinical data for these certain new mutation cases were as follows: 13 boys, 14 girls; mean age of onset 6.8 years; significant leg weakness in 19/27 (70%) (8/27 (30%) used wheelchairs at a mean age of 17.7 years); high tone sensorineural deafness in 10/27; visual acuity and direct ophthalmoscopy were normal. Congenital facial diplegia and sensorineural deafness in three children suggest that infantile FSHD is not a genetically separate disorder from FSHD. Ascertainment bias may explain the difference in severity between this group and typical familial cases. Molecular analysis for FSHD should be considered in children with either congenital or early onset facial weakness or diplegia.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Akiyama C., Suzuki H., Nonaka I. [A case of facioscapulohumeral muscular dystrophy with infantile spasms, sensorineural deafness and retinal vessel abnormality]. No To Hattatsu. 1991 Jul;23(4):395–399. [PubMed] [Google Scholar]
  2. Bailey R. O., Marzulo D. C., Hans M. B. Infantile facioscapulohumeral muscular dystrophy: new observations. Acta Neurol Scand. 1986 Jul;74(1):51–58. doi: 10.1111/j.1600-0404.1986.tb04625.x. [DOI] [PubMed] [Google Scholar]
  3. Brouwer O. F., Padberg G. W., Ruys C. J., Brand R., de Laat J. A., Grote J. J. Hearing loss in facioscapulohumeral muscular dystrophy. Neurology. 1991 Dec;41(12):1878–1881. doi: 10.1212/wnl.41.12.1878. [DOI] [PubMed] [Google Scholar]
  4. Desai U. R., Sabates F. N. Long-term follow-up of facioscapulohumeral muscular dystrophy and Coats' disease. Am J Ophthalmol. 1990 Nov 15;110(5):568–569. doi: 10.1016/s0002-9394(14)77885-7. [DOI] [PubMed] [Google Scholar]
  5. Feinberg A. P., Vogelstein B. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem. 1983 Jul 1;132(1):6–13. doi: 10.1016/0003-2697(83)90418-9. [DOI] [PubMed] [Google Scholar]
  6. Fitzsimons R. B., Gurwin E. B., Bird A. C. Retinal vascular abnormalities in facioscapulohumeral muscular dystrophy. A general association with genetic and therapeutic implications. Brain. 1987 Jun;110(Pt 3):631–648. doi: 10.1093/brain/110.3.631. [DOI] [PubMed] [Google Scholar]
  7. Fujimura H., Yoshikawa H., Ueno S., Yorifuji S., Tarui S. [A case of facioscapulohumeral muscular dystrophy with sensorineural hearing loss and retinal angioma]. Rinsho Shinkeigaku. 1989 Nov;29(11):1387–1391. [PubMed] [Google Scholar]
  8. Gieron M. A., Korthals J. K., Kousseff B. G. Facioscapulohumeral dystrophy with cochlear hearing loss and tortuosity of retinal vessels. Am J Med Genet. 1985 Sep;22(1):143–147. doi: 10.1002/ajmg.1320220116. [DOI] [PubMed] [Google Scholar]
  9. Gilbert J. R., Stajich J. M., Wall S., Carter S. C., Qiu H., Vance J. M., Stewart C. S., Speer M. C., Pufky J., Yamaoka L. H. Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD). Am J Hum Genet. 1993 Aug;53(2):401–408. [PMC free article] [PubMed] [Google Scholar]
  10. Griggs R. C., Tawil R., Storvick D., Mendell J. R., Altherr M. R. Genetics of facioscapulohumeral muscular dystrophy: new mutations in sporadic cases. Neurology. 1993 Nov;43(11):2369–2372. doi: 10.1212/wnl.43.11.2369. [DOI] [PubMed] [Google Scholar]
  11. Gurwin E. B., Fitzsimons R. B., Sehmi K. S., Bird A. C. Retinal telangiectasis in facioscapulohumeral muscular dystrophy with deafness. Arch Ophthalmol. 1985 Nov;103(11):1695–1700. doi: 10.1001/archopht.1985.01050110089033. [DOI] [PubMed] [Google Scholar]
  12. Hanson P. A., Rowland L. P. Möbius syndrome and facioscapulohumeral muscular dystrophy. Arch Neurol. 1971 Jan;24(1):31–39. doi: 10.1001/archneur.1971.00480310059005. [DOI] [PubMed] [Google Scholar]
  13. Jardine P., Jones M., Tyfield L., Upadhyaya M., Lunt P. De novo DNA rearrangement in atypical facioscapulohumeral muscular dystrophy. Clin Genet. 1993 Sep;44(3):167–167. doi: 10.1111/j.1399-0004.1993.tb03872.x. [DOI] [PubMed] [Google Scholar]
  14. Korf B. R., Bresnan M. J., Shapiro F., Sotrel A., Abroms I. F. Facioscapulohumeral dystrophy presenting in infancy with facial diplegia and sensorineural deafness. Ann Neurol. 1985 May;17(5):513–516. doi: 10.1002/ana.410170516. [DOI] [PubMed] [Google Scholar]
  15. Lecky B. R., MacKenzie J. M., Read A. P., Wilcox D. E. X-linked and FSH dystrophies in one family. Neuromuscul Disord. 1991;1(4):275–278. doi: 10.1016/0960-8966(91)90101-w. [DOI] [PubMed] [Google Scholar]
  16. Lunt P. W., Compston D. A., Harper P. S. Estimation of age dependent penetrance in facioscapulohumeral muscular dystrophy by minimising ascertainment bias. J Med Genet. 1989 Dec;26(12):755–760. doi: 10.1136/jmg.26.12.755. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Lunt P. W., Harper P. S. Genetic counselling in facioscapulohumeral muscular dystrophy. J Med Genet. 1991 Oct;28(10):655–664. doi: 10.1136/jmg.28.10.655. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Matsuzaka T., Sakuragawa N., Terasawa K., Kuwabara H. Facioscapulohumeral dystrophy associated with mental retardation, hearing loss, and tortuosity of retinal arterioles. J Child Neurol. 1986 Jul;1(3):218–223. doi: 10.1177/088307388600100308. [DOI] [PubMed] [Google Scholar]
  19. McGarry J., Garg B., Silbert S. Death in childhood due to facio-scapulo-humeral dystrophy. Acta Neurol Scand. 1983 Jul;68(1):61–63. doi: 10.1111/j.1600-0404.1983.tb04817.x. [DOI] [PubMed] [Google Scholar]
  20. Meyerson M. D., Lewis E., Ill K. Facioscapulohumeral muscular dystrophy and accompanying hearing loss. Arch Otolaryngol. 1984 Apr;110(4):261–266. doi: 10.1001/archotol.1984.00800300053012. [DOI] [PubMed] [Google Scholar]
  21. Padberg G. W., Lunt P. W., Koch M., Fardeau M. Diagnostic criteria for facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 1991;1(4):231–234. doi: 10.1016/0960-8966(91)90094-9. [DOI] [PubMed] [Google Scholar]
  22. Reardon W., Temple I. K., Harwood G., Baraitser M. Atypical facio-scapulo-humeral muscular dystrophy--a counselling dilemma. Clin Genet. 1991 Mar;39(3):172–177. doi: 10.1111/j.1399-0004.1991.tb03007.x. [DOI] [PubMed] [Google Scholar]
  23. Shimizu T., Miyamoto K., Hayashi H., Nagashima T., Hirose K., Tanabe H. [Congenital facioscapulohumeral muscular dystrophy associated with tongue atrophy and sensorineural hearing disturbance]. Rinsho Shinkeigaku. 1991 Apr;31(4):433–438. [PubMed] [Google Scholar]
  24. Small R. G. Coats' disease and muscular dystrophy. Trans Am Acad Ophthalmol Otolaryngol. 1968 Mar-Apr;72(2):225–231. [PubMed] [Google Scholar]
  25. TYLER F. H., STEPHENS F. E. Studies in disorders of muscle. II Clinical manifestations and inheritance of facioscapulohumeral dystrophy in a large family. Ann Intern Med. 1950 Apr;32(4):640–660. doi: 10.7326/0003-4819-32-4-640. [DOI] [PubMed] [Google Scholar]
  26. Taylor D. A., Carroll J. E., Smith M. E., Johnson M. O., Johnston G. P., Brooke M. H. Facioscapulohumeral dystrophy associated with hearing loss and Coats syndrome. Ann Neurol. 1982 Oct;12(4):395–398. doi: 10.1002/ana.410120414. [DOI] [PubMed] [Google Scholar]
  27. Upadhyaya M., Jardine P., Maynard J., Farnham J., Sarfarazi M., Wijmenga C., Hewitt J. E., Frants R., Harper P. S., Lunt P. W. Molecular analysis of British facioscapulohumeral dystrophy families for 4q DNA rearrangements. Hum Mol Genet. 1993 Jul;2(7):981–987. doi: 10.1093/hmg/2.7.981. [DOI] [PubMed] [Google Scholar]
  28. Upadhyaya M., Lunt P., Sarfarazi M., Broadhead W., Farnham J., Harper P. S. The mapping of chromosome 4q markers in relation to facioscapulohumeral muscular dystrophy (FSHD). Am J Hum Genet. 1992 Aug;51(2):404–410. [PMC free article] [PubMed] [Google Scholar]
  29. Voit T., Lamprecht A., Lenard H. G., Goebel H. H. Hearing loss in facioscapulohumeral dystrophy. Eur J Pediatr. 1986 Sep;145(4):280–285. doi: 10.1007/BF00439401. [DOI] [PubMed] [Google Scholar]
  30. Wijmenga C., Frants R. R., Brouwer O. F., Moerer P., Weber J. L., Padberg G. W. Location of facioscapulohumeral muscular dystrophy gene on chromosome 4. Lancet. 1990 Sep 15;336(8716):651–653. doi: 10.1016/0140-6736(90)92148-b. [DOI] [PubMed] [Google Scholar]
  31. Wijmenga C., Hewitt J. E., Sandkuijl L. A., Clark L. N., Wright T. J., Dauwerse H. G., Gruter A. M., Hofker M. H., Moerer P., Williamson R. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet. 1992 Sep;2(1):26–30. doi: 10.1038/ng0992-26. [DOI] [PubMed] [Google Scholar]
  32. Wijmenga C., van Deutekom J. C., Hewitt J. E., Padberg G. W., van Ommen G. J., Hofker M. H., Frants R. R. Pulsed-field gel electrophoresis of the D4F104S1 locus reveals the size and the parental origin of the facioscapulohumeral muscular dystrophy (FSHD)-associated deletions. Genomics. 1994 Jan 1;19(1):21–26. doi: 10.1006/geno.1994.1006. [DOI] [PubMed] [Google Scholar]
  33. Wulff J. D., Lin J. T., Kepes J. J. Inflammatory facioscapulohumeral muscular dystrophy and Coats syndrome. Ann Neurol. 1982 Oct;12(4):398–401. doi: 10.1002/ana.410120415. [DOI] [PubMed] [Google Scholar]
  34. Yasukohchi S., Yagi Y., Akabane T., Terauchi A., Tamagawa K., Mizuno Y. Facioscapulohumeral dystrophy associated with sensorineural hearing loss, tortuosity of retinal arterioles, and an early onset and rapid progression of respiratory failure. Brain Dev. 1988;10(5):319–324. doi: 10.1016/s0387-7604(88)80063-9. [DOI] [PubMed] [Google Scholar]
  35. van Deutekom J. C., Wijmenga C., van Tienhoven E. A., Gruter A. M., Hewitt J. E., Padberg G. W., van Ommen G. J., Hofker M. H., Frants R. R. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet. 1993 Dec;2(12):2037–2042. doi: 10.1093/hmg/2.12.2037. [DOI] [PubMed] [Google Scholar]

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