Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F17%3A10328293" target="_blank" >RIV/00216208:11110/17:10328293 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064165:_____/17:10328293

Výsledek na webu

<a href="http://dx.doi.org/10.1038/jhg.2016.117" target="_blank" >http://dx.doi.org/10.1038/jhg.2016.117</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1038/jhg.2016.117" target="_blank" >10.1038/jhg.2016.117</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness

Popis výsledku v původním jazyce

Heterozygous aberrations of SHOX gene have been reported to be responsible for Léri-Weill dyschondrosteosis (LWD) and small portion of idiopathic short stature. The study was established to assess effectiveness of using phenotype &apos;scoring form&apos; in patients indicated for SHOX gene defect analysis. The submitted study is based on a retrospective group of 352 unrelated patients enrolled as a part of the routine diagnostic practice and analyzed for aberrations affecting the SHOX gene. All participants were scanned for deletion/duplication within the main pseudoautosomal region (PAR1) using the multiplex ligation-dependent probe amplification (MLPA) method. The phenotype &apos;scoring form&apos; is used in our laboratory practice to preselect patients for subsequent mutation analysis of SHOX gene-coding sequences. The overall detection rate was 11.1% but there was a significant increase in frequency of SHOX gene defect positive with increasing achieved score (P&lt;0.0001). The most frequent aberration was a causal deletion within PAR1. In three probands, MLPA analysis indicated a more complex rearrangement. Madelung deformity or co-occurrence of disproportionate short stature, short forearm and muscular hypertrophy had represented the most potent markers to determine the likelihood of SHOX gene defect detection. We conclude that appliance of phenotype &apos;scoring form&apos; had saved excessive sample analysis and enabled effective routine diagnostic testing.

Název v anglickém jazyce

Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness

Popis výsledku anglicky

Heterozygous aberrations of SHOX gene have been reported to be responsible for Léri-Weill dyschondrosteosis (LWD) and small portion of idiopathic short stature. The study was established to assess effectiveness of using phenotype &apos;scoring form&apos; in patients indicated for SHOX gene defect analysis. The submitted study is based on a retrospective group of 352 unrelated patients enrolled as a part of the routine diagnostic practice and analyzed for aberrations affecting the SHOX gene. All participants were scanned for deletion/duplication within the main pseudoautosomal region (PAR1) using the multiplex ligation-dependent probe amplification (MLPA) method. The phenotype &apos;scoring form&apos; is used in our laboratory practice to preselect patients for subsequent mutation analysis of SHOX gene-coding sequences. The overall detection rate was 11.1% but there was a significant increase in frequency of SHOX gene defect positive with increasing achieved score (P&lt;0.0001). The most frequent aberration was a causal deletion within PAR1. In three probands, MLPA analysis indicated a more complex rearrangement. Madelung deformity or co-occurrence of disproportionate short stature, short forearm and muscular hypertrophy had represented the most potent markers to determine the likelihood of SHOX gene defect detection. We conclude that appliance of phenotype &apos;scoring form&apos; had saved excessive sample analysis and enabled effective routine diagnostic testing.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

10600 - Biological sciences

Projekt

—

Návaznosti

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

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

2

Stát vydavatele periodika

JP - Japonsko

Počet stran výsledku

5

Strana od-do

253-257

Kód UT WoS článku

000394087600017

EID výsledku v databázi Scopus

2-s2.0-85010899693