Inheritance of CMT1A duplication from a mosaic father.
- 1 June 1995
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 32 (6) , 483-485
- https://doi.org/10.1136/jmg.32.6.483
Abstract
We describe a case with molecular duplication of chromosome 17 (p11.2-p12) whose duplicated chromosome was inherited from a mosaic father. The patient has clinical manifestations consistent with Charcot-Marie-Tooth disease type 1A (CMT1A), while the mosaic father has minimal findings of CMT1A. The father was found to be homozygous with DNA markers VAW409R3A (D17S122) and p132G8RI (PMP-22) which are duplicated in CMT1A cases. Fluorescence in situ hybridisation (FISH) analysis with YAC clone 49H7 confirmed the duplication in the affected patient and diagnosed the mosaicism in his father. These findings based on clinical diagnosis and FISH analysis suggest that the mosaicism may have occurred early in embryogenesis leading to the disease in the father. This is the only reported case of CMT1A with transmission from a mildly affected mosaic father.Keywords
This publication has 17 references indexed in Scilit:
- Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesisHuman Molecular Genetics, 1993
- Clinical, cytogenetic, and molecular evidence for an infant with Smith–Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletionAmerican Journal of Medical Genetics, 1993
- Charcot — Marie — Tooth neuropathy type 1A with both duplication and non-duplicationHuman Molecular Genetics, 1993
- DNA deletion associated with hereditary neuropathy with liability to pressure palsiesCell, 1993
- Charcot–Marie–Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unitNature Genetics, 1992
- The gene for the peripheral myelin protein PMP–22 is a candidate for Charcot–Marie–Tooth disease type 1ANature Genetics, 1992
- The peripheral myelin gene PMP–22/GAS–3 is duplicated in Charcot–Marie–Tooth disease type 1ANature Genetics, 1992
- De-novo mutation in hereditary motor and sensory neuropathy type IThe Lancet, 1992
- DNA duplication associated with Charcot-Marie-Tooth disease type 1ACell, 1991
- Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)Neuromuscular Disorders, 1991