Paternal uniparental disomy on chromosome 22 and a de-novo deletion on chromosome 18 in individuals with orofacial clefts.
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Unilag Press, 2017
Background: Orofacial clefts are the commonest malformations of the head and neck region. Genetics, genomics and environmental factors have been implicated in the aetiology of these traits. Objective: Although paternal and maternal uniparental disomy (UPD) in clefts are very rare, they have been reported on chromosomes 6, 7, 10, 12,15 16 and 21. However, none has been reported on chromosome 22. To identify variation associated with non-syndromic clefts in sub-Saharan African population, we recently genotyped samples from affected cases, cases families and unrelated controls. The aim of study is to report cases of sex aneuploidies, trisomies, chromosomal anomalies, large deletions and duplications detected in our analysis. Methods: The recruitment of eligible individuals and families has been published (Butali et al., 2011; Gowans et al., 2016). Ethical approval was obtained from the Institutional Review Boards at the Kwame Nkrumah University of Science and Technology, Lagos University Teaching Hospital Idi-Araba, Lago, Obafemi Awolowo University Teaching Hospital Ile-Ife and the Addis Ababa University. We used the multi-ethnic genotyping array (MEGA) to identify genetic variation associated with non-syndromic clefts. The data cleaning of this dataset allowed for screening of annotated sex versus genetic sex, confirmation of identify by descent and identification of large chromosomal anomalies. Results: During data cleaning, we identified the first case of paternal uniparental disomy (patUPD) on chromosome 22. We also identified a de-novo deletion on chromosome 18. In addition to chromosomal anomalies, we identified cases with Klinefelter syndrome, Turner syndrome and Triple X syndrome. Conclusion: Observations from our study support the need for genetic testing in order to exclude chromosomal anomalies associated with clefting. The identification of these chromosomal anomalies and sex aneuploidies is very important in genetic counselling for families that are at risk. Therefore, clinicians should be mindful of the fact that not all isolated clefts are complex traits. Clinicians should also endeavor to share this information with families during routine clinical visits and evaluations. Keywords: Disomy; Paternal; Uniparental; Orofacial Clefts; Deletion
Disomy , Paternal , Uniparental , Deletion , Orofacial clefts , Research Subject Categories::ODONTOLOGY
Adeyemo WL, James O, Ogunlewe MO, Oseni GO, Jain D, Mossey PA, Busch TD, Gowans LJJ, Eshete MA, Laurie CA, Olaitan PB, Aregbesola BS, Bello SA, Abdur-Rahman L, Marazita ML, Murray JC, Adeyemo AA, Butali A. Paternal uniparental disomy on chromosome 22 and a de-novo deletion on chromosome 18 in individuals with orofacial clefts. 12th Annual Conference and Fair, University of Lagos. August 2017.