Publications by authors named "Daniel Sabbah"
Article Synopsis
- The study investigates damaging mutations in the human genome that may contribute to nonsyndromic cleft lip with or without cleft palate (nsCL ± P), focusing on high-impact mutations in African and Brazilian cohorts.* -
- Researchers utilized next-generation sequencing (NGS) and whole-exome sequencing to identify pathogenic variants and discovered several damaging mutations in a gene related to cell adhesion, which has a link to cleft palate in mice.* -
- The findings highlight the significance of the gene encoding AFADIN in the risk for nsCL ± P in humans and emphasize the effectiveness of combining NGS with computational analysis to better understand this condition's genetic basis.*
The majority (85%) of nonsyndromic cleft lip with or without cleft palate (nsCL/P) cases occur sporadically, suggesting a role for de novo mutations (DNMs) in the etiology of nsCL/P. To identify high impact protein-altering DNMs that contribute to the risk of nsCL/P, we conducted whole-genome sequencing (WGS) analyses in 130 African case-parent trios (affected probands and unaffected parents). We identified 162 high confidence protein-altering DNMs some of which are based on available evidence, contribute to the risk of nsCL/P.
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- Orofacial clefts (OFCs) and clubfoot (CTEV) are congenital defects affecting facial and foot structure, with specific occurrence rates of 1 in 700 and 1 in 1000 live births, respectively.
- * The study involved whole-exome sequencing of six individuals with both OFCs and CTEV to identify any common genetic causes.
- * Four out of six probands exhibited probable pathogenic genetic variants, with each showing mutations in one to three different genes associated with various genetic syndromes.
Background: A retrospective review of cleft lip and palate surgeries at our hospital during 2001-2005 showed an increase in patients treated per year. The aim of the study was to review the activities of the clinic, hence to determine the variation in number of cleft lip and palate cases and surgeries from 2006 to 2009, and also to identify the commonest type of cleft cases during the same period.
Methods: Data for this retrospective study were obtained from the outpatient department records of the cleft clinic and operating theater.