Study of the Clptm1 Gene in South American Non-syndromic Cleft Lip Patients with or without Palate
نویسندگان
چکیده
Cleft lip with/without palate (CL/P) is is perhaps the most common major birth defect and occurs in approximately 0.4-2 per 1000 liveborn infants in most populations depending on the geographic origin and ethnic background worldwide (1,2) In man, about 30% of cases are syndromic and in the rest (70%) of them, CL/P occurs as an isolated, sporadic defect where the clefts are without other anomalies. Such ‘non-syndromic’ CL/P (nsCL/P, MIM 119530) is a polygenic, multifactorial disorder, showing complex inheritance and thought that both genes and environmental factors, contributing either independently or in combination, are responsible for that kind of clefting (37). Recently, considerable evidence STUDY OF THE CLPTM1 GENE IN SOUTH AMERICAN NON-SYNDROMIC CLEFT LIP PATIENTS WITH OR WITHOUT PALATE
منابع مشابه
Common Mutations of the Methylenetetrahydrofolate Reductase (MTHFR) Gene in Non-Syndromic Cleft Lips and Palates Children in North-West of Iran
Introduction: Cleft lips and cleft palates are common congenital abnormalities in children. Various chromosomal loci have been suggested to be responsible the development of these abnormalities. The present study was carried out to investigate the association between the suspected genes (methylenetetrahydrofolate reductase [MTHFR] A1298C and C677T) that might contribute into the etiology of the...
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The aetiology of non-syndromic cleft lip with or without cleft palate (NSCL/P) is complex involving multiple interacting genes and environmental factors. The primary objective of the present study was to investigate the role of TFAP2A gene single nucleotide polymorphisms (SNPs) in the pathogenesis of NSCL/P. In this study, 173 unrelated NSCL/P patients and 176 controls without clefts were genot...
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INTRODUCTION From an epidemiological point of view, non-syndromic orofacial clefts are the most common oral congenital deformities worldwide. OBJECTIVE Family histories were traced and socioeconomic risk factors were identified for non-syndromic cleft lip with or without cleft palate. MATERIAL AND METHODS A case-control study was carried out with 208 cases of non-syndromic cleft lip with or...
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Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common of all congenital malformations and has a multifactorial etiology. Findings in mice suggest that the v-ski sarcoma viral oncogene homolog (SKI) gene is a candidate gene for orofacial clefting. In humans, a significant association between rs2843159 within SKI and NSCL/P has been reported in patients from the ...
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