In this study, the outcome of alveolar cleft repair using microporous beta-tricalcium phosphate (β-TCP) was investigated in patients with unilateral cleft lip and palate.
We tested methylation profile difference at each CpG between controls (n = 436) and each of the cleft subtypes (92 cleft lip only, CLO; 84 cleft palate only, CPO; 132 cleft lip and palate, CLP).
The ONT suture is effective to prevent uplifted nasal floor deformity on the cleft side// in unilateral complete cleft lip and palate at the time of primary nasolabial repair.
We identified a novel mouse mutant (<i>cleft lip/palate, edema and exencephaly; Clpex)</i> with a hypo-morphic mutation in <i>Post-Glycophosphatidylinositol Attachment to Proteins-2 (Pgap2)</i>, a component of the GPI biosynthesis pathway.
In addition to new associations, we found loci with subtype-specific effects (e.g., GRHL3 [CP], WNT5A [CLP]), as well as loci associated with two or all three subtypes.
Patients with NSCL±P treated between August 2013 and September 2014 at the Cleft Lip and Palate Integral Care Center (CAIF), Curitiba, Brazil, were invited to participate.
With only one previously described homozygous RAD51C variant to date, our findings expand the phenotypic spectrum of FANCO and suggest it should be part of the antenatal differential diagnosis for trisomy 13 and 18, due to the presence of atypical findings such as cleft lip and palate, holoprosencephaly, growth restriction and overlapping fingers.
Additionally, we detected great variations between individual CLP keratinocyte cell cultures in regard to their potential to terminally differentiate as assessed by the induction of Loricrin and Filaggrin.
Because Wnt3a is among the Wnts that contribute to nonsyndromic cleft lip and cleft palate in mouse and man, further investigation of Tinagl1 may help to elucidate mechanisms underlying these disorders.
After correcting for multiple testing, we observed significant associations between fetal single-nucleotide polymorphisms (SNPs) at IRF6, PAX7, 8q21.3, 8q24, KIAA1598-VAX1, and MAFB and isolated cleft lip only (CLO) and cleft lip and palate (CLP).
Significantly, we also report the identification of 2 unique missense mutations in the NME proteins in patients with CLP (NME1 R18Q in an IRF6 and GRHL3 mutation-negative patient with van der Woude syndrome and NME2 G71V in a patient with nonsyndromic CLP).
Significant associations were observed between isolated CLO and fetal SNPs near TPM1 and NOG1 and between CLP and fetal SNPs at ABCA4-ARHGAP29, THADA, FOXE1, and SPRY2.
After correcting for multiple testing, we observed significant associations between fetal single-nucleotide polymorphisms (SNPs) at IRF6, PAX7, 8q21.3, 8q24, KIAA1598-VAX1, and MAFB and isolated cleft lip only (CLO) and cleft lip and palate (CLP).
We assessed the formation of the oral microbiota in infants with complete cleft lip and palate (CLP <i>n</i> = 30) or cleft soft palate (CSP <i>n</i> = 25) in the neonatal period (T1 time) and again in the gum pad stage (T2 time).
Significantly, we also report the identification of 2 unique missense mutations in the NME proteins in patients with CLP (NME1R18Q in an IRF6 and GRHL3 mutation-negative patient with van der Woude syndrome and NME2 G71V in a patient with nonsyndromic CLP).
Significant associations were observed between isolated CLO and fetal SNPs near TPM1 and NOG1 and between CLP and fetal SNPs at ABCA4-ARHGAP29, THADA, FOXE1, and SPRY2.