PMID- 9852234
OWN - NLM
STAT- MEDLINE
DCOM- 19990322
LR  - 20190516
IS  - 1107-3756 (Print)
IS  - 1107-3756 (Linking)
VI  - 1
IP  - 2
DP  - 1998 Feb
TI  - Mosaicism for Charcot-Marie-Tooth disease type 1A: onset in childhood suggests 
      somatic reversion in early developmental stages.
PG  - 333-7
AB  - A 1.5 Mb duplication on chromosome 17p11.2 is typical for the great majority of 
      patients suffering from Charcot-Marie-Tooth type 1A (CMT1A) disease. A female 
      child of 4 years with clinical signs and symptoms of a demyelinating neuropathy 
      was examined for the presence of this duplication. Analysis of MspI polymorphisms 
      in DNA extracted from peripheral blood failed due to homozygosity for probes 
      pVAW409R3a and pEW401HE. Also, no EcoRI/SacI 3.2 kb junction fragment or dosage 
      difference with probe pLR7.8, characteristic of the CMT1A duplication, was found. 
      However, fluorescence in situ hybridization (FISH) analysis with the PMP22 
      specific probe c132G8 revealed in peripheral blood lymphocytes 60% of interphase 
      nuclei with CMT1A duplication indicating the probability of mosaicism. In 
      interphase nuclei extracted from nerve tissue the duplication was detectable in 
      88%, in muscle tissue in 72% of the analyzed nuclei. This suggests the presence 
      of a somatic CMT1A duplication mosaicism that can only be reliably detected by 
      FISH. The early onset and severity of the phenotype indicates that the 
      hypothesized somatic reversion is probably fixed to early developmental stages.
FAU - Rautenstrauss, B
AU  - Rautenstrauss B
AD  - Institut fur Humangenetik, 91054 Erlangen, Germany.
FAU - Liehr, T
AU  - Liehr T
FAU - Fuchs, C
AU  - Fuchs C
FAU - Bevot, A
AU  - Bevot A
FAU - Bornemann, A
AU  - Bornemann A
FAU - Postler, E
AU  - Postler E
FAU - Meyermann, R
AU  - Meyermann R
FAU - Uhlhaas, S
AU  - Uhlhaas S
FAU - Friedl, W
AU  - Friedl W
FAU - Michaelis, R
AU  - Michaelis R
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Greece
TA  - Int J Mol Med
JT  - International journal of molecular medicine
JID - 9810955
SB  - IM
MH  - Age of Onset
MH  - Charcot-Marie-Tooth Disease/*genetics
MH  - Child, Preschool
MH  - *Chromosomes, Human, Pair 17
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Mosaicism/*genetics
EDAT- 1998/12/16 00:00
MHDA- 1998/12/16 00:01
CRDT- 1998/12/16 00:00
PHST- 1998/12/16 00:00 [pubmed]
PHST- 1998/12/16 00:01 [medline]
PHST- 1998/12/16 00:00 [entrez]
AID - 10.3892/ijmm.1.2.333 [doi]
PST - ppublish
SO  - Int J Mol Med. 1998 Feb;1(2):333-7. doi: 10.3892/ijmm.1.2.333.