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PMID: 8500795 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

Charcot-Marie-tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2-->12.

Human genetics ·Vol. 91 ·No. 4 ·1993-05-00 ·Pages 392-4

Upadhyaya M, Roberts SH, Farnham J, MacMillan JC, Clarke A, Heath JP, Hodges IC, Harper PS

Abstract

We report here the second case of Charcot-Marie-Tooth disease 1A (CMT1A) with a cytogenetically visible de novo direct duplication of 17p11.1-->17p12. A male child who was initially referred for developmental delay and dysmorphism was subsequently shown to have significantly reduced motor nerve conduction velocities characteristic of CMT1A. This patient was not informative for the DNA markers mapping to the CMT1A region; however, with DNA markers pA10-41 and EW503 that map proximally and distally with respect to the disease locus, a dosage difference was observed between the two alleles. Comparison with parental genotypes indicated a de novo maternal duplication. Pulsed field gel analysis using probe VAW409R3a indicated that a 500-kb SacII junction fragment usually associated with CMT1A was absent in this patient. These findings confirm that the disease phenotype is probably caused by a gene dosage effect.

Related Genes
PMP22
MeSH Terms
Charcot-Marie-Tooth Disease/genetics Child, Preschool Chromosome Aberrations Chromosomes, Human, Pair 17 DNA Mutational Analysis Electrophoresis, Gel, Pulsed-Field Humans Male Mothers Repetitive Sequences, Nucleic Acid/genetics
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Upadhyaya M
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK.
Roberts S H
Farnham J
MacMillan J C
Clarke A
Heath J P
Hodges I C
Harper P S
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00217365
Published
1993-05-00
Pages
392-4
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00217365 View journal details
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