Long Term Follow-Up in a Patient with a De Novo Microdeletion of 14q11.2 Involving CHD8

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F15%3A10294502" target="_blank" >RIV/00216208:11130/15:10294502 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064203:_____/15:10294502

Výsledek na webu

<a href="http://dx.doi.org/10.1002/ajmg.a.36957" target="_blank" >http://dx.doi.org/10.1002/ajmg.a.36957</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1002/ajmg.a.36957" target="_blank" >10.1002/ajmg.a.36957</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Long Term Follow-Up in a Patient with a De Novo Microdeletion of 14q11.2 Involving CHD8

Popis výsledku v původním jazyce

We identified a de novo deletion of 14q11.2 in a Czech patient with developmental delay, mild autistic features, macrosomy, macrocephaly, orthognathic deformities, and dysmorphic facial features. The clinical follow-up of the patient lasting 14 years documented changes in the facial dysmorphism from infancy to adolescence. The deletion affects approximately 200kb of DNA with five protein-coding genes and two snoRNA genes. Two of the protein-coding genes, SUPT16H and CHD8, have been proposed as candidategenes for a new microdeletion syndrome. Our patient further supports the existence of this syndrome and extends its phenotypic spectrum, especially points to the possibility that orthognathic deformities may be associated with microdeletions of 14q11.2.CHD8 mutations have been found in patients with neurodevelopmental disorders and macrocephaly. The HNRNPC gene, repeatedly deleted in patients with developmental delay, is another candidate as its 5' end is adjacent to the deletion, and

Název v anglickém jazyce

Long Term Follow-Up in a Patient with a De Novo Microdeletion of 14q11.2 Involving CHD8

Popis výsledku anglicky

We identified a de novo deletion of 14q11.2 in a Czech patient with developmental delay, mild autistic features, macrosomy, macrocephaly, orthognathic deformities, and dysmorphic facial features. The clinical follow-up of the patient lasting 14 years documented changes in the facial dysmorphism from infancy to adolescence. The deletion affects approximately 200kb of DNA with five protein-coding genes and two snoRNA genes. Two of the protein-coding genes, SUPT16H and CHD8, have been proposed as candidategenes for a new microdeletion syndrome. Our patient further supports the existence of this syndrome and extends its phenotypic spectrum, especially points to the possibility that orthognathic deformities may be associated with microdeletions of 14q11.2.CHD8 mutations have been found in patients with neurodevelopmental disorders and macrocephaly. The HNRNPC gene, repeatedly deleted in patients with developmental delay, is another candidate as its 5' end is adjacent to the deletion, and

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

—

Projekt

Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2015

Kód důvěrnosti údajů

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

Název periodika

American Journal of Medical Genetics, Part A

ISSN

1552-4825

e-ISSN

—

Svazek periodika

167A

Číslo periodika v rámci svazku

4

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

5

Strana od-do

837-841

Kód UT WoS článku

000352019000027

EID výsledku v databázi Scopus

2-s2.0-84925625610