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Title: Somatic mosaicism for a DMD gene deletion

Abstract

Mosaicism is a mixed state, with two cell populations of different genetic origins caused by a cell mutation occurring after fertilization. In the present case, DNA analysis of lymphocytes led to a DMD diagnosis before death. Postmortem immunocytochemical and DNA analysis showed somatic mosaicism. At age 18 years, blood lymphocyte DNA analysis showed a DMD gene deletion, upstream from exon 7 to the 5{prime} end containing both muscle and brain promoters. As the patient`s mother and elder sister had no deletions, he was considered to have a new mutation. Immunocytochemical studies of postmortem tissues showed that dystrophin was absent from the tongue, deltoid, intercostal, psoas and rectus femoris muscles, but there was a mix of dystrophin-positive and negative fibers in the rectus abdominis, cardiac, temporalis and sternocleidomastoid muscles. All diaphragm cells were dystrophin positive. Polymerase chain reaction (PCR) amplification from all tissues except the temporalis and sternocleidomastoid muscles, diaphragm and kidney, in which no deletion was found, showed the deletion from at least exon 6 to the 5{prime} end containing both muscle and brain promoters. In this case, a genomic deletion of the DMD gene contributed to the formation of tissues derived from both ectoderm and endoderm, and cells ofmore » mesodermal origin showed genotypic and phenotypic heterogeneity. Our results indicate a mutation of the present case may have occurred just before the period of germ layer formation. 34 refs., 7 figs.« less

Authors:
; ;  [1]
  1. Tokyo Women`s Medical College (Japan); and others
Publication Date:
Sponsoring Org.:
USDOE
OSTI Identifier:
99076
Resource Type:
Journal Article
Journal Name:
American Journal of Medical Genetics
Additional Journal Information:
Journal Volume: 56; Journal Issue: 1; Other Information: PBD: 13 Mar 1995
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN X CHROMOSOME; CHROMOSOMAL ABERRATIONS; MOSAICISM; PATIENTS; PHENOTYPE; TISSUE DISTRIBUTION; GENES; GENE MUTATIONS; MUSCLES; DISEASES; LYMPHOCYTES; POLYMERASE CHAIN REACTION; GENOTYPE; PROMOTERS; PROTEINS

Citation Formats

Saito, Kayoko, Ikeya, Kiyoko, and Kondo, Eri. Somatic mosaicism for a DMD gene deletion. United States: N. p., 1995. Web. doi:10.1002/ajmg.1320560118.
Saito, Kayoko, Ikeya, Kiyoko, & Kondo, Eri. Somatic mosaicism for a DMD gene deletion. United States. https://doi.org/10.1002/ajmg.1320560118
Saito, Kayoko, Ikeya, Kiyoko, and Kondo, Eri. 1995. "Somatic mosaicism for a DMD gene deletion". United States. https://doi.org/10.1002/ajmg.1320560118.
@article{osti_99076,
title = {Somatic mosaicism for a DMD gene deletion},
author = {Saito, Kayoko and Ikeya, Kiyoko and Kondo, Eri},
abstractNote = {Mosaicism is a mixed state, with two cell populations of different genetic origins caused by a cell mutation occurring after fertilization. In the present case, DNA analysis of lymphocytes led to a DMD diagnosis before death. Postmortem immunocytochemical and DNA analysis showed somatic mosaicism. At age 18 years, blood lymphocyte DNA analysis showed a DMD gene deletion, upstream from exon 7 to the 5{prime} end containing both muscle and brain promoters. As the patient`s mother and elder sister had no deletions, he was considered to have a new mutation. Immunocytochemical studies of postmortem tissues showed that dystrophin was absent from the tongue, deltoid, intercostal, psoas and rectus femoris muscles, but there was a mix of dystrophin-positive and negative fibers in the rectus abdominis, cardiac, temporalis and sternocleidomastoid muscles. All diaphragm cells were dystrophin positive. Polymerase chain reaction (PCR) amplification from all tissues except the temporalis and sternocleidomastoid muscles, diaphragm and kidney, in which no deletion was found, showed the deletion from at least exon 6 to the 5{prime} end containing both muscle and brain promoters. In this case, a genomic deletion of the DMD gene contributed to the formation of tissues derived from both ectoderm and endoderm, and cells of mesodermal origin showed genotypic and phenotypic heterogeneity. Our results indicate a mutation of the present case may have occurred just before the period of germ layer formation. 34 refs., 7 figs.},
doi = {10.1002/ajmg.1320560118},
url = {https://www.osti.gov/biblio/99076}, journal = {American Journal of Medical Genetics},
number = 1,
volume = 56,
place = {United States},
year = {Mon Mar 13 00:00:00 EST 1995},
month = {Mon Mar 13 00:00:00 EST 1995}
}