PMID- 25265422
OWN - NLM
STAT- MEDLINE
DCOM- 20150915
LR  - 20150120
IS  - 1439-1899 (Electronic)
IS  - 0174-304X (Linking)
VI  - 46
IP  - 1
DP  - 2015 Feb
TI  - Overlap phenotype between CMT1A and hereditary neuropathy with liability to 
      pressure palsies caused by the novel small in-frame deletion c.407_418del12 in 
      PMP22 gene.
PG  - 44-8
LID - 10.1055/s-0034-1389897 [doi]
AB  - We report monozygotic twins, who presented with a clinical picture of 
      Charcot-Marie-Tooth disease type 1 (CMT1) with bilateral foot drop, pes cavus, 
      thoracic kyphosis, and scoliosis. Hereditary neuropathy with liability to 
      pressure palsies (HNPP) showed up in one of them. Neurography showed 
      demyelinating neuropathy, typical for CMT1, and transient conduction block in the 
      ulnar nerve correlating with clinical ulnar palsy due to minor mechanical stress 
      in only one of them. Genetic analysis revealed novel small de novo deletion 
      c.407_418del12 in the PMP22 gene. Our patient shows the rarely reported 
      combination of CMT1A and HNPP, caused by an in-frame deletion in the PMP22 gene. 
      HNPP is in the majority of cases correlated with heterozygous deletion of the 
      whole PMP22 gene or other mutations leading to functional haploinsufficiency. The 
      cases give further evidence that pathogenesis of HNPP is not completely 
      understood and can obviously result from existence of a defective protein, too. 
      The intrafamiliar phenotypic variability, even in monozygotic twins, confirms the 
      well-known fact that factors apart from genetics contribute to the clinical 
      course.
CI  - Georg Thieme Verlag KG Stuttgart . New York.
FAU - Vill, Katharina
AU  - Vill K
AD  - Dr. v. Hauner Children Hospital, Ludwig-Maximilian University of Munich, Germany.
FAU - Kuhn, Marius
AU  - Kuhn M
AD  - Genetikum Center for Human Genetics, Neu-Ulm, Germany.
FAU - Glaser, Dieter
AU  - Glaser D
AD  - Genetikum Center for Human Genetics, Neu-Ulm, Germany.
FAU - Muller-Felber, Wolfgang
AU  - Muller-Felber W
AD  - Dr. v. Hauner Children Hospital, Ludwig-Maximilian University of Munich, Germany.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20140929
PL  - Germany
TA  - Neuropediatrics
JT  - Neuropediatrics
JID - 8101187
RN  - 0 (Myelin Proteins)
RN  - 0 (PMP22 protein, human)
RN  - Tomaculous neuropathy
SB  - IM
MH  - Arthrogryposis/*complications/*genetics
MH  - Charcot-Marie-Tooth Disease/*complications/*genetics
MH  - Child, Preschool
MH  - DNA Mutational Analysis
MH  - Hereditary Sensory and Motor Neuropathy/*complications/*genetics
MH  - Humans
MH  - Male
MH  - *Mutation
MH  - Myelin Proteins/*genetics
MH  - Neural Conduction/genetics
MH  - Pedigree
MH  - Phenotype
EDAT- 2014/09/30 06:00
MHDA- 2015/09/16 06:00
CRDT- 2014/09/30 06:00
PHST- 2014/09/30 06:00 [entrez]
PHST- 2014/09/30 06:00 [pubmed]
PHST- 2015/09/16 06:00 [medline]
AID - 10.1055/s-0034-1389897 [doi]
PST - ppublish
SO  - Neuropediatrics. 2015 Feb;46(1):44-8. doi: 10.1055/s-0034-1389897. Epub 2014 Sep 
      29.