We report a case of de novo microdeletion of 15q24.3-q25.2 in an infant with orofacial cleft and general hypotonia and suggest that this may be a critical region in orofacial development. In addition, this case highlights the usefulness of comparative genomic microarray in the evaluation of children with congenital anomalies with such defects.
AbeA., HatanoY., KuritaK., NakanoM., ShimizuM., YokoiT., SugiyamaN.Monosomy and trisomy of 15q24-qter with cleft lip and palate. Int J Oral Maxillofac Surg.2008; 37: 487–490.
CushmanL.J., Torres-MartinezW., CherryA.M., ManningM.A., Abdul-RahmanO., AndersonC.E., PunnettH.H., ThurstonV.C., SweeneyD., VanceG.H.A report of three patients with an interstitial deletion of chromosome 15q24. Am J Med Genet A.2005; 137: 65–71.
FujitaH., NagataM., OnoK., OkuboH., TakagiR.Linkage analysis between BCL3 and nearby genes on 19q13.2 and non-syndromic cleft lip with or without cleft palate in multigenerational Japanese families. Oral Dis.2004; 10: 353–359.
6.
GasparD.A., MatioliS.R., de Cassia PavanelloR., AraujoB.C., AlonsoN., WyszynskiD., Passos-BuenoM.R.Maternal MTHFR interacts with the offspring's BCL3 genotypes, but not with TGFA, in increasing risk to nonsyndromic cleft lip with or without cleft palate. Eur J Med Genet.2004; 12: 521–526.
7.
Kiholm LundA.B., HoveH.D., KirchhoffM.A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients. Eur J Med Genet.2008; 51: 520–526.
8.
KlopockiE., Graul-NeumannL.M., GriebenU., TönniesH., RopersH.H., HornD., MundlosS., UllmannR.A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. Eur J Pediatr.2008; 167: 903–908.
9.
KristoffersonU., HeimS., MandahlN., SundkvistL., SzelestJ., HagerstrandI.Monosomy and trisomy 15q24-qter in a family with a translocation t(6: 15)(p25;q24). Clin Genet.1987; 32: 169–171.
LuX.Y., PhungM.T., ShawC.A., PhamK., NeilS.E., PatelA., SahooT., BacinoC.A., StankiewiczP., KangS.L.. Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics.2008; 122: 1310–1318.
13.
McCafferyP.J., AdamsJ., MadenM., Rosa-MolinarE.Too much of a good thing: retinoic acid as an endogenous regulator of neural differentiation and exogenous teratogen. Eur J Neurosci.2003; 18: 457–472.
14.
OsoegawaK., VessereG.M., UtamiK.H., MansillaM.A., JohnsonM.K., RileyB.M., L'HeureuxJ., PfundtR., StaafJ., van der VlietW.A.. Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridization. J Med Genet.2008; 45: 81–86.
15.
ParkB.Y., SullJ.W., ParkJ.Y., JeeS.H., BeatyT.H.Differential parental transmission of markers in BCL3 among Korean cleft case-parent trios. J Prev Med Public Health.2009; 42: 1–4.
16.
RobackE.W., BarakatA.J., DevV.G., MbikayM., ChrétienM., ButlerM.G.An infant with deletion of the distal long arm of chromosome 15(q26.1-qter) and loss of insulin-like receptor gene. Am J Med Genet.1991; 38: 74–79.
17.
SaamJ., GudgeonJ., AstonE., BrothmanA.R.How physicians use array comparative genomic hydridization results to guide patient management in children with developmental delay. Genet Med.2008; 10: 181–186.
VieiraA.R.Unraveling human cleft lip and palate research. J Dent Res.2008; 87: 119–125.
22.
VieiraA.R., McHenryT.G., Daack-HirschS., MurrayJ.C., MarazitaM.L.Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. Genet Med.2008; 10: 668–674.
23.
VissersL.E., VeltmanJ.A., van KesselA.G., BrunnerH.G.Identification of disease genes by whole genome CGH arrays. Hum Mol Genet.2005 Oct 15;14 Spec No. 2: R215–R223.
24.
WangX., ChanS.J., EddyR.L., ByersM.G., FukushimaY., HenryW.M., HaleyL.L., SteinerD.F., ShowsT.B.Chromosome assignment of cathepsin B (CTSB) to 8p22 and cathepsin H (CTSH) to 15q24-q25. Cytogenet Cell Genet.1987; 46: 710–711.
25.
XuX., HanJ., ItoY., BringasP.Jr, UrataM.M., ChaiY.Cell autonomous requirement for Tgfbr2 in disappearance of medial edge epithelium during palatal fusion. Dev Biol.2006; 297: 238–248.
26.
ZhuJ.H., RenA.G., HaoL., PeiL.J., LiuJ.M., ZhuH.P., LiS., FinnellR.H., LiZ.Variable contribution of the MTHFR C677T polymorphism to non-syndromic cleft lip and palate risk in China. Am J Med Genet A.2006; 140: 551–557.