Orofacial Cleft 8

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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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A number sign (#) is used with this entry because of evidence that orofacial cleft-8 (OFC8) is caused by heterozygous mutation in the TP63 gene (603273) on chromosome 3q28.

Clinical Features

Leoyklang et al. (2006) reported a 4-year-old Thai girl with a surgically repaired bilateral complete cleft lip. Her parents were unaffected.

Basha et al. (2018) reported a family (CLP-1055) in which the proband and his father had orofacial cleft. The son had a unilateral, right-sided cleft lip. He had no limb anomaly, no ectodermal dysplasia, and no cardiac malformations. Follow-up until the age of 3.5 years showed growth and development within normal limits. His father had a unilateral, left-sided cleft lip. Both were reexamined for minor symptoms of other TP63 disorders and none were found.

Molecular Genetics

In a 4-year-old Thai girl with nonsyndromic orofacial cleft, Leoyklang et al. (2006) identified a missense mutation in the TP63 gene (R313G; 603273.0021).

In a family (CLP-1055) in which the proband and his father had orofacial cleft-8, Basha et al. (2018) identified heterozygosity for a 2-bp duplication (603273.0029) in the TP63 gene. The mutation, which was found by exome sequencing, segregated with the phenotype in the family and was not present in the gnomAD database.