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In Search of Mutations of MSX1 Gene in Indian Nonsyndromic Cleft Palate Patients

Objective: To understand the role of MSX1 gene in Indian nonsyndromic cleft palate patients. Materials and methods: A cross-sectional study was devised consisting of nonsyndromic cleft lip and palate and cleft palate only patients. The study was conducted in an Orthodontic Department of a Tertiary Teaching Hospital. Fifty-two patients were included in the study, inclusion criteria were: (A) nonsyndromic oral clefting, Cl/P: (B) absence of a tooth or teeth (tooth agenesis). Interventions: Case history, clinical examination and radiographic evidence of missing teeth were recorded. Blood samples, obtained after a written consent, were collected in 1.5 ml polypropylene microfuge tubes and transferred to the laboratory in dry ice. Genomic DNA was isolated and exon 1 site was subjected to polymerase chain reaction (PCR) amplification. The PCR product was further subjected to restriction enzyme analysis with 0.5 units of MbO2. Main outcome measures: Mutations in exon 1 region of MSX1 gene were reported by Van den Boogard et al (2000), in a Dutch family with nonsyndromic oral clefting, this study was done to ascertain if mutation of exon 1 region could be involved in Indian nonsyndromic oral clefting. Results: There was perfect digestion of MbO2 enzyme, thus confirming the absence of mutation in the patient samples. Conclusion: The absence of mutation in the selected patient samples correlates with those reported for a Caucasian population (Lidral et al, 1998), but not with those reported from a Dutch family (Van den Boogaard et al, 2000). The findings of this study are significant as they establish the genetic diversity involved in nonsyndromic clefting. This study can be further expanded to include the noncoding regions of MSX1 gene.