Cleft lip and palate (CLP) is a relatively common congenital malformation. The etiology is complex and postulated to be a combination of genetic and environmental factors. The genetic loci for nonsyndromic CLP remain poorly characterized. Two families have recently been reported with a chromosome 17p13.3 microduplication and CLP. We report a third family with four individuals affected by nonsyndromic bilateral CLP and a 350-kb chromosome 17p13.3 microduplication (17:1,113,102–1,461,838). Our family possesses the smallest overlapping chromosome 17p13.3 microduplication associated with CLP, narrowing down the critical region for this potential new genetic locus for CLP.
BrunoD.L., AnderlidB.M., LindstrandA., van Ravenswaaij-ArtsC., GanesamoorthyD., LundinJ., MartinC.L., DouglasJ., NowakC., AdamM.P.. Further molecular and clinical delineation of colocating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.J Med Genet.2010; 47: 299–311.
3.
CapraV., Mirabelli-BadenierM., StagnaroM., RossiA., TassanoE., GimelliS., GimelliG.Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems.BMC Med Genet.2012; 13: 93. doi: 10.1186/1471-2350-13-93.
4.
CurryC.J., RosenfeldJ.A., GrantE., GrippK.W., AndersonC., AylsworthA.S., SaadT.B., ChizhikovV.V., DyboseG., FagerbergC.. The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.Am J Med Genet A.2013; 161A: 1833–1852.
5.
FirthH.V., HurstJ.A.Oxford Desk Reference Clinical Genetics.Oxford: Oxford University Press;2003: 77.
6.
HennekamR.C.M., KrantzI.D., AllansonJ.E.Gorlin's Syndromes of the Head and Neck.Oxford: Oxford University Press;2010: 946.
7.
HyonC., MarlinS., Chantot-BastaraudS., MabbouxP., BeaujardM-P, Al AgeeliE., VazquezM-P, PicardA., SiffroiJ-P, PortnoïM-F. A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation.Eur J Med Genet2011; 54: 287–291.
8.
ImaizumiT., ArakiK., MiuraK., ArakiM., SuzukiM., TerasakiH., YamamuraK.Mutant mice lacking Crk-II caused by the gene trap insertional mutagenesis: Crk-II is not essential for embryonic development.Biochem Biophys Res Commun.1999; 266: 569–574.
9.
KaartinenV., Gonzalez-GomezI., VonckenJ.W., HaatajaL., FaureE., NagyA., GroffenJ., HeisterkampN.Abnormal function of astroglia lacking Abr and Bcr RacGAPs.Development.2001; 128: 4217–4227.
10.
RobertE., KallenB., HarrisJ.The epidemiology of orofacial clefts. 1. Some general epidemiological characteristics.J Craniofac Genet Dev Biol.1996; 16: 234–241.
11.
RoosL., JønchA.E., KjaergaardS., TaudorfK., SimonsenH., Hamborg-PetersenB., Brøndum-NielsenK., KirchhoffM.A new microduplication syndrome encompassing the region of the Miller-Dieker (17pl3 deletion) syndrome.J Med Genet.2009; 46: 703–710.
12.
TuckerM., EscobarL.Cleft lip/palate associated with 17p13.3 duplication involving a single candidate gene (YWHAE).Clin Genet.2014; 85: 600–601.
13.
VenitT., DzijakR., KalendováA., KahleM., RohožkováJ., SchmidtV., RülickeT., RathkolbB., HansW., BohlaA.. Mouse nuclear myosin I knock-out shows interchangeability and redundancy of myosin isoforms in the cell nucleus.PLoS One.2013; 8: e61406.
