Orofacial Cleft 9

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

IRF6, MSX1, TP63, NECTIN1, CDH1, BMP4, DLX4, ARHGAP29, DLG1, CALML3, COTL1, TERT, TGFA, CLPTM1L, CSRP3, MTHFR, PHF8, RPE65, CKAP4, UVRAG, TGFB3, SUMO1, PART1, CHD7, PTCH1, TIMP2, FGFR1, MTR, MAFB, MMP3, NAT2, WNT9B, NAT1, TBX22, BHMT, CBS, HFM, BMP2, SYNJ2, IFT88, KISS1R, WNT3A, KLF17, PGAP2, ARTN, WNT5A, WNT3, B3GLCT, PRSS35, MIR494, TPM1, CPO, KLF4, RAB34, TINAGL1, ACSS2, GTPBP4, RIC1, SHTN1, GRHL3, VAX1, CAMKMT, SNAP91, POMT1, ADAMTS20, SAE1, WNT10A, DNAJC5, NECTIN4, BHMT2, RARA, TGFB1, SPP1, FGF10, FGF9, FGF8, FGF3, FGF2, STOM, DMD, DLX1, DEFB1, DCN, CLPTM1, CDH2, KRIT1, CALM3, CALM2, CALM1, BCL3, ARSD, AGRP, AFP, ABCA4, FGFR2, FOXE1, FLG, NME1, SPINK1, SPARC, SLC19A1, RYK, RAD51C, PCNA, PAX7, PAX3, NME2, NHLH1, FN1, MYH9, MTRR, MTHFD1, MMP13, MMP1, MID1, HTC2, GNRHR, GABRB3, CBSL

Drugs

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For a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic cleft lip/palate (CL/P), see 119530.

Mapping

In 2 Indian pedigrees with isolated, nonsyndromic cleft lip with or without cleft palate segregating as an autosomal dominant trait, Radhakrishna et al. (2006) demonstrated linkage to 13q33.1-q34, with a nonparametric linkage score of 5.57 at marker rs1830756. Haplotype analysis with informative crossovers enabled the mapping of a CL/P locus to a region of approximately 20.17 cM (7.42 Mb) between SNPs rs951095 and rs726455. The phenotype was variable, ranging from unilateral to bilateral CL/P. The authors noted that CL/P is very common in patients with trisomy involving all or part of chromosome 13 (Berge et al., 2001).