Jun 7, 2018

Whole-genome sequencing in a pair of monozygotic twins with discordant cleft lip and palate subtypes

Oral Diseases
Masahiro TakahashiAtsushi Tajima


Orofacial clefts (OFCs) are common and etiologically complex birth defects. This study explored potential genetic differences in a pair of Japanese monozygotic (MZ) twins with different forms of OFC using whole-genome sequencing. One co-twin (MZ-1) presented with nonsyndromic bilateral cleft lip and palate; the other co-twin (MZ-2) had nonsyndromic bilateral cleft lip and unilateral left-sided cleft alveolus. Neither parent had an OFC. Craniofacial morphologic features and potential genetic differences were compared using standard cephalometry and whole-genome sequencing, respectively. Morphologically, MZ-1 had a smaller vertical mandibular height, compared to MZ-2. However, no discordant genetic differences were detected. Moreover, both twins and their parents harbored rare candidate gene variants (GRHL3; TPM1) considered to be associated with OFCs. The observed differences between MZ-1 and MZ-2 in craniofacial morphology assessed by cephalograms might be directly attributable to the effects of the OFC on growth and/or differences in surgical history, given the lack of any differences in genetic background. However, comparisons of discordant MZ twins should continue to identify novel candidates that might control OFC or that m...Continue Reading

  • References28
  • Citations1


  • References28
  • Citations1

Mentioned in this Paper

Bilateral Cleft Lip
Tooth Socket
Science of Morphology
Candidate Disease Gene
Cleft Palate, Isolated
MZ-6 compound
Monozygotic Twins

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