A Linkage Study of Emery-Dreifuss Muscular Dystrophy

Overview

Journal Hum Genet

Specialty Genetics

Date 1986 Dec 1

PMID 3466853

Citations 9

Authors

S Hodgson

E Boswinkel

C Cole

A Walker

V Dubowitz

C Granata

L Merlini

M Bobrow

Affiliations

Soon will be listed here.

Abstract

We have searched for linkage between polymorphic loci defined by DNA markers on the X chromosome and X-linked Emery-Dreifuss muscular dystrophy (EDMD). There are high recombination rates between EDMD and the Xp loci known to be linked to Becker and Duchenne muscular dystrophy. There is a suggestion of linkage between EDMD and the loci DXS52 and DXS15, defined by probes St14 and DX13 respectively, located at Xq28. Z for DXS15 = 1.14 at theta = 0.15. This is in agreement with the previously reported linkage between a disorder strongly resembling EDMD and colour-blindness (Thomas et al. 1972), suggesting that there is a second locus on the X chromosome concerned with muscle integrity.

Citing Articles

Comparative meta-analysis of transcriptomic studies in spinal muscular atrophy: comparison between tissues and mouse models.

Kumar S, Brandt K, Claus P, Jung K BMC Med Genomics. 2024; 17(1):266.

PMID: 39529156 PMC: 11555813. DOI: 10.1186/s12920-024-02040-0.

Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28.

Yates J, Warner J, Smith J, Deymeer F, Azulay J, Hausmanowa-Petrusewicz I J Med Genet. 1993; 30(2):108-11.

PMID: 8445613 PMC: 1016264. DOI: 10.1136/jmg.30.2.108.

Diagnosis of genetic disease using recombinant DNA. Supplement.

Cooper D, Schmidtke J Hum Genet. 1987; 77(1):66-75.

PMID: 3305309 DOI: 10.1007/BF00284717.

Molecular analysis of muscular dystrophy.

Davies K, Kenwrick S, Patterson M, Smith T, Forrest S, Dorkins H J Muscle Res Cell Motil. 1988; 9(1):1-8.

PMID: 3292577 DOI: 10.1007/BF01682143.

The William Allan memorial award address: X-chromosome inactivation and the location and expression of X-linked genes.

Lyon M Am J Hum Genet. 1988; 42(1):8-16.

PMID: 3276178 PMC: 1715299.

References

EMERY A, Dreifuss F . Unusual type of benign x-linked muscular dystrophy. J Neurol Neurosurg Psychiatry. 1966; 29(4):338-42. PMC: 1064196. DOI: 10.1136/jnnp.29.4.338. View

SCHWARTZ M, Swash M . Scapuloperoneal atrophy with sensory involvement: Davidenkow's syndrome. J Neurol Neurosurg Psychiatry. 1975; 38(11):1063-7. PMC: 492157. DOI: 10.1136/jnnp.38.11.1063. View

Aldridge J, Kunkel L, Bruns G, Tantravahi U, Lalande M, Brewster T . A strategy to reveal high-frequency RFLPs along the human X chromosome. Am J Hum Genet. 1984; 36(3):546-64. PMC: 1684472. View

ul Hassan Z, Fastabend C, Mohanty P, Isaacs E . Atrioventricular block and supraventricular arrhythmias with X-linked muscular dystrophy. Circulation. 1979; 60(6):1365-9. DOI: 10.1161/01.cir.60.6.1365. View

Ott J . Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. Am J Hum Genet. 1974; 26(5):588-97. PMC: 1762722. View

Dreifuss F, Hogan G . Survival in x-chromosomal muscular dystrophy. Neurology. 1961; 11:734-7. DOI: 10.1212/wnl.11.8.734. View

Kunkel L, Smith K, Boyer S, Borgaonkar D, Wachtel S, MILLER O . Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci U S A. 1977; 74(3):1245-9. PMC: 430660. DOI: 10.1073/pnas.74.3.1245. View

Merlini L, Granata C, Dominici P, Bonfiglioli S . Emery-Dreifuss muscular dystrophy: report of five cases in a family and review of the literature. Muscle Nerve. 1986; 9(6):481-5. DOI: 10.1002/mus.880090602. View

Drayna D, Davies K, Hartley D, Mandel J, Camerino G, Williamson R . Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms. Proc Natl Acad Sci U S A. 1984; 81(9):2836-9. PMC: 345165. DOI: 10.1073/pnas.81.9.2836. View

10.

Harper K, Winter R, Pembrey M, Hartley D, Davies K, Tuddenham E . A clinically useful DNA probe closely linked to haemophilia A. Lancet. 1984; 2(8393):6-8. DOI: 10.1016/s0140-6736(84)91995-0. View

11.

Camerino G, Grzeschik K, Jaye M, de la Salle H, Tolstoshev P, Lecocq J . Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus). Proc Natl Acad Sci U S A. 1984; 81(2):498-502. PMC: 344705. DOI: 10.1073/pnas.81.2.498. View

12.

Mawatari S, Katayama K . Scapuloperoneal muscular atrophy with cardiopathy. An X-linked recessive trait. Arch Neurol. 1973; 28(1):55-9. DOI: 10.1001/archneur.1973.00490190073010. View

13.

Winship P, Anson D, Rizza C, Brownlee G . Carrier detection in haemophilia B using two further intragenic restriction fragment length polymorphisms. Nucleic Acids Res. 1984; 12(23):8861-72. PMC: 320424. DOI: 10.1093/nar/12.23.8861. View

14.

Chakrabarti A, Pearce J . Scapuloperoneal syndrome with cardiomyopathy: report of a family with autosomal dominant inheritance and unusual features. J Neurol Neurosurg Psychiatry. 1981; 44(12):1146-52. PMC: 491236. DOI: 10.1136/jnnp.44.12.1146. View

15.

Holmberg L . Genetic studies in a family with testicular feminization, haemophilia A and colour blindness. Clin Genet. 1972; 3(4):253-7. DOI: 10.1111/j.1399-0004.1972.tb04273.x. View

16.

Southern E . Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol. 1975; 98(3):503-17. DOI: 10.1016/s0022-2836(75)80083-0. View

17.

Page D, de la Chapelle A . The parental origin of X chromosomes in XX males determined using restriction fragment length polymorphisms. Am J Hum Genet. 1984; 36(3):565-75. PMC: 1684446. View

18.

Oberle I, Drayna D, Camerino G, White R, Mandel J . The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency. Proc Natl Acad Sci U S A. 1985; 82(9):2824-8. PMC: 397658. DOI: 10.1073/pnas.82.9.2824. View

19.

Dickey R, ZITER F, Smith R . Emery-Dreifuss muscular dystrophy. J Pediatr. 1984; 104(4):555-9. DOI: 10.1016/s0022-3476(84)80546-6. View

20.

Goodfellow P, Davies K, Ropers H . Report of the Committee on the Genetic Constitution of the X and Y Chromosomes. Cytogenet Cell Genet. 1985; 40(1-4):296-352. DOI: 10.1159/000132178. View