The Genetic Status of Mothers of Isolated Cases of Duchenne Muscular Dystrophy

Overview

Journal J Med Genet

Specialty Genetics

Date 1983 Feb 1

PMID 6842530

Citations 16

Authors

R J Lane

M ROBINOW

A D Roses

Affiliations

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Abstract

Classical genetic theory, based on assumed equal mutation rates in males and females, predicts that one-third of all cases of Duchenne muscular dystrophy (DMD) in a generation are born as new mutants to non-carrier mothers. Furthermore, less than half the mothers of apparently isolated cases appear to be carriers on the basis of raised serum creatine kinase levels. We have analysed the pedigrees of 61 families of DMD boys seen in the Duke Neuromuscular Research Clinic and 45 DMD families followed at the University of Virginia. The frequency of affected boys among the next born male sibs of 37 initially isolated DMD cases in two clinic populations was significantly greater than predicted by Haldane's theory (p = 0.029) and the estimated proportion of new mutant cases in the combined clinic population of 106 families was 0.127 (SE 0.111). The absence of affected males in earlier generations in families of isolated cases may be explained in part by a high ratio of male to female stillbirths and infant deaths, which was more than three times that of the normal population in this study. These data suggest that new mutant cases are less common than expected and current predictions may underestimate genetic risks in mothers of isolated cases.

Citing Articles

Novel Partial Exon 51 Deletion in the Duchenne Muscular Dystrophy Gene Identified Whole Exome Sequencing and Long-Read Whole-Genome Sequencing.

Li Q, Chen Z, Xiong H, Li R, Yu C, Meng J Front Genet. 2021; 12:762987.

PMID: 34899847 PMC: 8662377. DOI: 10.3389/fgene.2021.762987.

Comparison of Carrier and Pathogenic Variants in a Chinese DMD/BMD Cohort.

Lin J, Li H, Liao Z, Wang L, Zhang C Front Neurol. 2021; 12:714677.

PMID: 34421809 PMC: 8375267. DOI: 10.3389/fneur.2021.714677.

Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing.

Shastry A, Aravind S, Sunil M, Ramesh K, Ashley B, T N Mol Genet Genomic Med. 2021; 9(5):e1633.

PMID: 33960727 PMC: 8172192. DOI: 10.1002/mgg3.1633.

Wonkam-Tingang E, Nguefack S, Esterhuizen A, Chelo D, Wonkam A Mol Genet Genomic Med. 2020; 8(8):e1362.

PMID: 32543101 PMC: 7434738. DOI: 10.1002/mgg3.1362.

Emerging Strategies in the Treatment of Duchenne Muscular Dystrophy.

Shieh P Neurotherapeutics. 2018; 15(4):840-848.

PMID: 30414046 PMC: 6277306. DOI: 10.1007/s13311-018-00687-z.

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