Identification of Paternal Uniparental Disomy on Chromosome 22 and a De-novo Deletion on Chromosome 18 in Individuals with Orofacial Clefts

Ganiyu O. Oseni, Deepti Jain, Peter Mossey, Tamara D. Busch, Lord J. J. Gowans, Mekonen A. Eshete, Wasiu L. Adeyemo, Cecelia A. Laurie, Cathy C. Laurie, Arwa Owais, Peter Babatunde Olaitan, Babatunde S. Aregbesola, Fadekemi Oginni, Saidu A. Bello, Peter Donkor, Rosemary Audu, Chika K. Onwuamah, Solomon Obiri-Yeboah, Gyikua Plange-Rhule, Olugbenga M. OgunleweJames Olutayo, Taiye Halilu, Firke Abate, Lukman Olajide Abdur-Rahman, Abimbola V . Oladugba, Mary L. Marazita, Jeffrey C. Murray, Adebowale Adeyemo, Azeez Butali

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Abstract

Background: Orofacial clefts are the most common malformations of the head and neck region. Genetic and environmental factors have been implicated in the etiology of these traits.

Methods: We recently conducted genotyping of individuals from the African population using the multiethnic genotyping array (MEGA) to identify common genetic variation associated with nonsyndromic orofacial 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: We identified the first reported orofacial cleft case associated with 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 molecular karyotypes suggesting Klinefelter syndrome, Turner syndrome and Triple X syndrome.

Conclusion: Observations from our study support the need for genetic testing when clinically indicated in order to exclude chromosomal anomalies associated with clefting. The identification of these chromosomal anomalies and sex aneuploidies is important in genetic counseling for families that are at risk. Clinicians should share any identified genetic findings and place them in context for the families during routine clinical visits and evaluations.

Original languageEnglish
Pages (from-to)924-932
Number of pages9
JournalMolecular Genetics and Genomic Medicine
Volume6
Issue number6
Early online date23 Aug 2018
DOIs
Publication statusPublished - 1 Nov 2018

Keywords

  • cleft lip and palate
  • deletions
  • GWAS
  • uniparental disomy

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    Mossey, Peter

    • Dentistry - Professor (Clinical) & Personal Chair of Craniofacial Dev & Dentofacial Orthopaeds

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