Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation.
A pair of female monozygotic (MZ) twins, heterozygous carriers for a deletion in the DMD gene and discordant for the clinical manifestations of Duchenne muscular dystrophy, were analyzed by molecular studies, in situ hybridization, and methylation pattern of X chromosomes to search for opposite X inactivation as an explanation of their clinical discordance. Results in lymphocytes and skin fibroblast cell lines suggest a partial mirror inactivation with the normal X chromosome preferentially active in the unaffected twin, and the maternal deleted X chromosome preferentially active in the affected twin. A review shows that MZ female twins discordant for X-linked diseases are not uncommon. Twinning and X inactivation may be interrelated and could explain the female twins discordant for X-linked traits.
Abbadi
N
N
Laboratoire de Génétique Université de Nancy, France.
Philippe
C
C
Chery
M
M
Gilgenkrantz
H
H
Tome
F
F
Collin
H
H
Theau
D
D
Recan
D
D
Broux
O
O
Fardeau
M
M
D001483:Base Sequence; D002648:Child; D004200:Diseases in Twins / Q000235:genetics*; D004303:Dosage Compensation, Genetic; D016189:Dystrophin / Q000032:analysis / Q000096:biosynthesis / Q000235:genetics; D005260:Female; D005786:Gene Expression Regulation; D006801:Humans; D017403:In Situ Hybridization; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics*; D010375:Pedigree; D017384:Sequence Deletion; D014430:Twins, Monozygotic
D016189:Dystrophin