HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F17%3A10373859" target="_blank" >RIV/00216208:11130/17:10373859 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/17:10373859
Result on the web
<a href="https://doi.org/10.1038/jhg.2016.148" target="_blank" >https://doi.org/10.1038/jhg.2016.148</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1038/jhg.2016.148" target="_blank" >10.1038/jhg.2016.148</a>

Result language
angličtina
Original language name
HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8
Original language description
Hereditary motor and sensory neuropathy-type Lom (HMSNL), also known as CMT4D, a demyelinating neuropathy with late-onset deafness is an autosomal recessive disorder threatening Roma population worldwide. The clinical phenotype was reported in several case reports before the gene discovery. HMSNL is caused by a homozygous founder mutation p.Arg148* in the N-Myc downstream-regulated gene 1. Here, we report findings from the Czech Republic, where HMSNL was found in 12 Czech patients from eight families. In these 12 patients, 11 of the causes were due to p.Arg148* mutation inherited from both parents by the autosomal recessive mechanism. But in one case, the recessive mutation was inherited only from one parent (father) and unmasked owing to an uniparental isodisomy of the entire chromosome eight. The inherited peripheral neuropathy owing to an isodisomy of the whole chromosome pointed to an interesting, less frequent possibility of recessive disease and complications with genetic counseling.
Czech name
—
Czech description
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Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
30103 - Neurosciences (including psychophysiology)

Project
<a href="/en/project/NV15-31899A" target="_blank" >NV15-31899A: Hereditary recessive diseases in Czech Roma – improved diagnostics and search for new causes by the use of homozygosity mapping and exome sequencing.</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2017
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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