DLX4 is associated with orofacial clefting and abnormal jaw development

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68378050%3A_____%2F15%3A00455111" target="_blank" >RIV/68378050:_____/15:00455111 - isvavai.cz</a>

Result on the web

<a href="http://dx.doi.org/10.1093/hmg/ddv167" target="_blank" >http://dx.doi.org/10.1093/hmg/ddv167</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1093/hmg/ddv167" target="_blank" >10.1093/hmg/ddv167</a>

Result language

angličtina

Original language name

DLX4 is associated with orofacial clefting and abnormal jaw development

Original language description

Cleft lip and/or palate (CL/P) are common structural birth defects in humans. We used exome sequencing to study a patient with bilateral CL/P and identified a single nucleotide deletion in the patient and her similarly affected son-c. 546_546delG, predicting p.Gln183Argfs*57 in the Distal-less 4 (DLX4) gene. The sequence variant was absent from databases, predicted to be deleterious and was verified by Sanger sequencing. In mammals, there are three Dlx homeobox clusters with closely located gene pairs (Dlx1/Dlx2, Dlx3/Dlx4, Dlx5/Dlx6). In situ hybridization showed that Dlx4 was expressed in the mesenchyme of the murine palatal shelves at E12.5, prior to palate closure. Wild-type human DLX4, but not mutant DLX4_c.546delG, could activate two murine Dlx conserved regulatory elements, implying that the mutation caused haploinsufficiency. We showed that reduced DLX4 expression after short interfering RNA treatment in a human cell line resulted in significant up-regulation of DLX3, DLX5 and

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

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Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2015

Confidentiality

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

Name of the periodical

Human Molecular Genetics

ISSN

0964-6906

e-ISSN

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Volume of the periodical

24

Issue of the periodical within the volume

15

Country of publishing house

GB - UNITED KINGDOM

Number of pages

13

Pages from-to

4340-4352

UT code for WoS article

000361314100014

EID of the result in the Scopus database

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