Orofacial Cleft 15

Watchlist

(log in to enable)

Retrieved

2019-09-22

Source

Omim

Trials

—

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

—

Interested in hearing about new therapies?

A number sign (#) is used with this entry because of evidence that orofacial cleft-15 (OFC15) is caused by mutation in the DLX4 gene (601911) on chromosome 17q21. One such family has been reported.

For a discussion of genetic heterogeneity of nonsyndromic cleft/lip palate (CL/P), see OFC1 (119530).

Clinical Features

Wu et al. (2015) studied a Hispanic mother and son with bilateral cleft lip and palate and minor dysmorphic features. The mother had CL/P repaired in early childhood. On examination at 16 years of age, her speech was hyponasal and she exhibited high anterior hairline, sparse eyebrows, prominent ears, hypertelorism, euryblepharon, lagophthalmos, and mild ectropion of the lower eyelids. She also had marked midface hypoplasia with an anterior crossbite, and the lateral incisors were missing. Her son was also born with bilateral CL/P and showed similar facial dysmorphism, with sparse eyebrows, prominent ears, bulbous nasal tip, euryblepharon, lagophthalmos, and mild ectropion of the lower eyelids. In addition, he had cryptorchidism and bilateral inguinal hernias. There was no family history of cleft lip or palate.

Molecular Genetics

In a Hispanic woman with bilateral CL/P and minor facial dysmorphism, who was negative for mutation in genes known to be associated with CL/P, Wu et al. (2015) performed whole-exome sequencing and identified heterozygosity for a 1-bp deletion in the DLX4 gene (601911.0001) that was also present in her affected son but was not found in public variant databases. Analysis of DLX4 in 3 patients with blepharocheilodontic syndrome (see 119580) and in 155 patients with nonsyndromic CL, CL/P, or CP did not reveal any mutations.