Orofacial Cleft 4

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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

Using 13 microsatellite markers specific for 4q in a study of 7 of 8 persons with CL/P in a 5-generation family, Beiraghi et al. (1994) found evidence of linkage between the phenotype and 2 markers, D4S175 (maximum lod = 2.27 at theta = 0) and D4S192 (maximum lod = 1.93 at theta = 0). No linkage with markers on chromosome 6 was found in this family.

In linkage studies of 36 multiplex Chinese families with CL/P, Marazita et al. (2002) found the highest multipoint heterogeneity lod score (2.5) at 4q with marker D4S1629 under a recessive inheritance model. In addition, there was a positive identity-by-descent result with D4S2361.

Cytogenetics

In a father and son with cleft lip, Beiraghi et al. (2003) identified a balanced pericentric inversion of chromosome 4, inv(4)(p13q21). They found that the breakpoint at 4q21 interrupts the SCD5 gene (608370) at exon 2.