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Background   Split-hand/foot malformation (SHFM) is a severe congenital disability mainly characterized by the absence or hypoplasia of the central ray of the hand/foot. To date, several candidate genes associated with SHFM have been identified, including  TP63 ,  DLX5 ,  DLX6 ,  FGFR1 , and  WNT10B . Herein, we report a novel variant of  TP63  heterozygously present in affected members of a family with SHFM.Methods   This study investigated a Chinese family, in which the proband and his son suffered from SHFM. The peripheral blood sample of the proband was used to perform whole-exome sequencing (WES) to explore the possible genetic causes of this disease. Postsequencing bioinformatic analyses and Sanger sequencing were conducted to verify the identified variants and parental origins on all family members in the pedigree.Results   By postsequencing bioinformatic analyses and Sanger sequencing, we identified a novel missense variant (NM_003722.4:c.948G>A; p.Met316Ile) of  TP63  in this family that results in a substitution of methionine with isoleucine, which is probably associated with the occurrence of SHFM.Conclusion   A novel missense variant (NM_003722.4:c.948G>A; p.Met316Ile) of  TP63  in SHFM was thus identified, which may enlarge the spectrum of known  TP63  variants and also provide new approaches for genetic counselling of families with SHFM.

A Novel Missense Variant of TP63 Heterozygously Present in Split-Hand/Foot Malformation