Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeres

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F18%3A10375858" target="_blank" >RIV/00216208:11130/18:10375858 - isvavai.cz</a>

Alternative codes found

RIV/00064203:_____/18:10375858

Result on the web

<a href="https://doi.org/10.1002/ajmg.a.38711" target="_blank" >https://doi.org/10.1002/ajmg.a.38711</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1002/ajmg.a.38711" target="_blank" >10.1002/ajmg.a.38711</a>

Result language

angličtina

Original language name

Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeres

Original language description

Microdeletions of 17q24.2-q24.3 have been described in several patients with developmental and speech delay, growth retardation, and other features. The relatively large size and limited overlap of the deletions complicate the genotype-phenotype correlation. We identified a girl with intellectual disability, growth retardation, dysmorphic features, and a de novo 2.8 Mb long deletion of 17q24.2-q24.3. Her phenotype was strikingly similar to one previously described boy with Dubowitz syndrome (MIM 223370) and a de novo 3.9 Mb long deletion encompassing the deletion of our patient. In addition, both patients had the shortest telomeres among normal age-matched controls. Our review of all 17q24.2-q24.3 deletion patients revealed additional remarkable phenotypic features shared by the patients, some of which have consequences for their management. Proposed novel genotype-phenotype correlations based on new literature information on the region include the role of PSMD12 and BPTF, the genes recently associated with syndromic neurodevelopmental disorders, and a possible role of the complex topologically associated domain structure of the region, which may explain some of the phenotypic discrepancies observed between patients with similar but not identical deletions. Nevertheless, although different diagnoses including the Dubowitz, Nijmegen breakage (MIM 251260), Silver-Russell (MIM 180860), or Myhre (MIM 139210) syndromes were originally considered in the 17q24.2-q24.3 deletion patients, they clearly belong to one diagnostic entity defined by their deletions and characterized especially by developmental delay, specific facial dysmorphism, abnormalities of extremities and other phenotypes, and possibly also short telomere length.

Czech name

—

Czech description

—

Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

10600 - Biological sciences

Project

<a href="/en/project/NV17-29423A" target="_blank" >NV17-29423A: Analysis of genetic variants associated with intellectual disability and autism spectrum disorders using next generation sequencing</a><br>

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2018

Confidentiality

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

Name of the periodical

American Journal of Medical Genetics: Part A

ISSN

1552-4825

e-ISSN

—

Volume of the periodical

176

Issue of the periodical within the volume

6

Country of publishing house

US - UNITED STATES

Number of pages

5

Pages from-to

1438-1442

UT code for WoS article

000434040600023

EID of the result in the Scopus database

2-s2.0-85046038468