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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00064203:_____/17:10373859

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30103 - Neurosciences (including psychophysiology)

Projekt

<a href="/cs/project/NV15-31899A" target="_blank" >NV15-31899A: Dědičná recesivní onemocnění u českých Romů – zefektivnění a rozšíření diagnostiky s využitím homozygotního mapování a celoexomového sekvenování.</a><br>

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2017

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Journal of Human Genetics

ISSN

1434-5161

e-ISSN

—

Svazek periodika

62

Číslo periodika v rámci svazku

3

Stát vydavatele periodika

JP - Japonsko

Počet stran výsledku

5

Strana od-do

431-435

Kód UT WoS článku

000395902400011

EID výsledku v databázi Scopus

2-s2.0-85014040434