Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F18%3A10376309" target="_blank" >RIV/00216208:11130/18:10376309 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064203:_____/18:10376309

Výsledek na webu

<a href="https://doi.org/10.1038/s10038-018-0444-9" target="_blank" >https://doi.org/10.1038/s10038-018-0444-9</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1038/s10038-018-0444-9" target="_blank" >10.1038/s10038-018-0444-9</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy

Popis výsledku v původním jazyce

Approximately 20 cases of genome-wide uniparental disomy or diploidy (GWUPD) as mosaicism have previously been reported. We present the case of an 11-year-old deaf girl with a paternal uniparental diploidy or isodisomy with a genomewide loss of heterozygosity (LOH). The patient was originally tested for non-syndromic deafness, and the novel variant p. V234I in the ESRRB gene was found in a homozygous state. Our female proband is the seventh patient diagnosed with GWUPD at a later age and is probably the least affected of the seven, as she has not yet presented any malignancy. Most, if not all, reported patients with GWUPD whose clinical details have been published have developed malignancy, and some of those patient developed malignancy several times. Therefore, our patient has a high risk of malignancy and is carefully monitored by a specific outpatient pediatric oncology program. This observation seems to be novel and unique in a GWUPD patient. Our study is also unique as it not only provides very detailed documentation of the genomic situations of various tissues but also reports differences in the mosaic ratios between the blood and saliva, as well as a normal biparental allelic situation in the skin and biliary duct. Additionally, we were able to demonstrate that the mosaic ratio in the blood remained stable even after 3 years and has not changed over a longer period.

Název v anglickém jazyce

Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy

Popis výsledku anglicky

Approximately 20 cases of genome-wide uniparental disomy or diploidy (GWUPD) as mosaicism have previously been reported. We present the case of an 11-year-old deaf girl with a paternal uniparental diploidy or isodisomy with a genomewide loss of heterozygosity (LOH). The patient was originally tested for non-syndromic deafness, and the novel variant p. V234I in the ESRRB gene was found in a homozygous state. Our female proband is the seventh patient diagnosed with GWUPD at a later age and is probably the least affected of the seven, as she has not yet presented any malignancy. Most, if not all, reported patients with GWUPD whose clinical details have been published have developed malignancy, and some of those patient developed malignancy several times. Therefore, our patient has a high risk of malignancy and is carefully monitored by a specific outpatient pediatric oncology program. This observation seems to be novel and unique in a GWUPD patient. Our study is also unique as it not only provides very detailed documentation of the genomic situations of various tissues but also reports differences in the mosaic ratios between the blood and saliva, as well as a normal biparental allelic situation in the skin and biliary duct. Additionally, we were able to demonstrate that the mosaic ratio in the blood remained stable even after 3 years and has not changed over a longer period.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

10600 - Biological sciences

Projekt

<a href="/cs/project/NV16-31173A" target="_blank" >NV16-31173A: Masivně paralelní sekvenování (MPS) pro objasňování příčin časných dědičných poruch sluchu u českých pacientů s vyloučenými mutacemi v GJB2 genu.</a><br>

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2018

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

63

Číslo periodika v rámci svazku

7

Stát vydavatele periodika

JP - Japonsko

Počet stran výsledku

8

Strana od-do

803-810

Kód UT WoS článku

000436196200003

EID výsledku v databázi Scopus

2-s2.0-85045151784