Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation.

ABSTRACT:

Aim and method

We analysed DNA samples isolated from individuals born with cleft lip and cleft palate to identify deletions and duplications of candidate gene loci using array comparative genomic hybridisation (array-CGH).

Results

Of 83 syndromic cases analysed we identified one subject with a previously unknown 2.7 Mb deletion at 22q11.21 coinciding with the DiGeorge syndrome region. Eighteen of the syndromic cases had clinical features of Van der Woude syndrome and deletions were identified in five of these, all of which encompassed the interferon regulatory factor 6 (IRF6) gene. In a series of 104 non-syndromic cases we found one subject with a 3.2 Mb deletion at chromosome 6q25.1-25.2 and another with a 2.2 Mb deletion at 10q26.11-26.13. Analyses of parental DNA demonstr

SUBMITTER: Osoegawa K 

PROVIDER: S-EPMC3732463 | biostudies-literature | 2008 Feb

REPOSITORIES: biostudies-literature