Sulaiman, Wan Azman Wan and Halim, Ahmad Sukari and lsa, Mohd Nizam
(2009)
Risk identification for msxi mutation in non-syndromic cleft lip
and palate deformities for the formulation of prevention
stra tegtes.
Risk identification for msxi mutation in non-syndromic cleft lip and palate deformities for the formulation of prevention stra tegtes..
(Submitted)
Abstract
Orofaciai clefts are congenital structural anomalies of the lip and/or palate that affect between I in
2000 and I in 500 live births worldwide. In Kelantan, it affect I in 600 live births. Their frequent
occurrence as well as their extensive psychological, surgical, speech and dental involvement emphasize the
importance of understanding the underlying causes. The etiology is complex, including multiple genetic
and environmental factors. They can occur as one component of multiple congenital anomaly syndromes or
as non-syndromic forms. The non-syndromic forms are more common and are likely due to secondary
gene-environment interactions. Recent advances in both molecular and quantitative approaches have begun
to identify the genes responsible for the rare syndromic and the more common and complex non-syndromic
variants.
From January, 1999 until December, 2002, 102 non-syndromic cleft lip and/or palate patients and
parents have been studied in Reconstructive Sciences Unit, Universiti Sains Malaysia. All the studied
patients have been interviewed to detect the common environmental factors that may contribute to the
occurrence of the clefts deformity. From 102 patients included into the study, 41 venous blood samples
(patient, father and mother) have been studied for MSX I mutation.
MSX I mutation shows a significant contribution to the occurrence of the cleft group compare to
the non-cleft control group (P<O.OOO I). Parents MSX I mutation shows a significant contribution to the
mutation of the MSX I gene in the cleft patient (P~O.O II) predominantly paternal contribution (P~O.OO I).
There is a highly significant possibility for the cleft child to inherit the mutation of the MSXI gene if both
parents has the mutation, odd ratio 10.5 at P~0.007. There is no significant contribution of the
environmental factors to the mutation of the MSX I gene, but there is a significant contribution of the
paternal cigarette smoking to the incidence of clefts in general (P<O.OOO I) in I 02 samples compared to I 00
controls.
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