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Tytuł pozycji:

Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations.

Tytuł:
Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations.
Autorzy:
van Paassen BW; Department of Clinical Genetics, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
Bronk M; Department of Clinical Genetics, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
Verhamme C; Department of Neurology, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
van Ruissen F; Department of Clinical Genetics, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
Baas F; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
van Spaendonck-Zwarts KY; Department of Clinical Genetics, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
de Visser M; Department of Neurology, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
Źródło:
Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2017 Dec; Vol. 22 (4), pp. 464-467. Date of Electronic Publication: 2017 Sep 11.
Typ publikacji:
Case Reports
Język:
English
Imprint Name(s):
Publication: <2010->: Hoboken, NJ Wiley
Original Publication: New York, NY : Woodland Publications, c1996-
MeSH Terms:
Inheritance Patterns*
Charcot-Marie-Tooth Disease/*diagnosis
Charcot-Marie-Tooth Disease/*genetics
Nerve Tissue Proteins/*genetics
Adult ; Charcot-Marie-Tooth Disease/pathology ; Charcot-Marie-Tooth Disease/physiopathology ; Genes, Dominant ; Humans ; Middle Aged ; Pedigree
Contributed Indexing:
Keywords: Charcot-Marie-Tooth type 2; GDAP1; pseudodominant inheritance
Substance Nomenclature:
0 (GDAP protein)
0 (Nerve Tissue Proteins)
Entry Date(s):
Date Created: 20170825 Date Completed: 20180720 Latest Revision: 20181204
Update Code:
20240105
DOI:
10.1111/jns.12236
PMID:
28837237
Raport
We report a family in which an autosomal dominantly inherited Charcot-Marie-Tooth (CMT) disease type 2 was suspected. The affected family members (proband, sister, father, and paternal aunt) showed intrafamilial clinical variability. The proband needed walking aids since adolescence because of generalized muscle weakness. The sister showed the same symptoms although to a lesser extent. The father and paternal aunt had foot deformity and atrophy of lower legs. A homozygous GDAP1 mutation was found in the proband and in the sister. Further testing showed compound heterozygous GDAP1 mutations in the father and paternal aunt. In this CMT2 family with a pseudodominant inheritance pattern DNA-diagnostics revealed the presence of both homozygous and compound heterozygous GDAP1 mutations. We recommend including multiple family members in genetic studies on CMT families.
(© 2017 Peripheral Nerve Society.)
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