Journal article
Identification of paternal uniparental disomy on chromosome 22 and a de novo deletion on chromosome 18 in individuals with orofacial clefts
Molecular genetics & genomic medicine, Vol.6(6), pp.924-932
11/2018
DOI: 10.1002/mgg3.459
PMCID: PMC6305633
PMID: 30141273
Abstract
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.
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.
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.
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.
Details
- Title: Subtitle
- Identification of paternal uniparental disomy on chromosome 22 and a de novo deletion on chromosome 18 in individuals with orofacial clefts
- Creators
- Ganiyu O Oseni - Department of Plastic Surgery, Ladoke Akintola University of Science and Technology, Osogbo, NigeriaDeepti Jain - Department of Biostatistics, Genetic Coordinating Center, University of Washington, Seattle, WashingtonPeter A Mossey - Department of Orthodontics, University of Dundee, Dundee, UKTamara D Busch - Department of Pediatrics, University of Iowa, Iowa City, IowaLord J J Gowans - Kwame Nkrumah University of Science and Technology, Kumasi, GhanaMekonen A Eshete - School of Public Health, Addis Ababa University, Addis Ababa, EthiopiaWasiu L Adeyemo - Department of Oral and Maxillofacial Surgery, University of Lagos, Lagos, NigeriaCecelia A Laurie - Department of Biostatistics, Genetic Coordinating Center, University of Washington, Seattle, WashingtonCathy C Laurie - Department of Biostatistics, Genetic Coordinating Center, University of Washington, Seattle, WashingtonArwa Owais - Department of Pediatric Dentistry, University of Iowa, Iowa City, IowaPeter B Olaitan - Department of Plastic Surgery, Ladoke Akintola University of Science and Technology, Osogbo, NigeriaBabatunde S Aregbesola - Department of Oral and Maxillofacial Surgery, Obafemi Awolowo University, Ile Ife, NigeriaFadekemi O Oginni - Department of Oral and Maxillofacial Surgery, Obafemi Awolowo University, Ile Ife, NigeriaSaidu A Bello - State House Clinic, Abuja, NigeriaPeter Donkor - Kwame Nkrumah University of Science and Technology, Kumasi, GhanaRosemary Audu - Department of Virology, Nigerian Institute of Medical Research, Lagos, NigeriaChika Onwuamah - Department of Virology, Nigerian Institute of Medical Research, Lagos, NigeriaSolomon Obiri-Yeboah - Kwame Nkrumah University of Science and Technology, Kumasi, GhanaGyikua Plange-Rhule - Kwame Nkrumah University of Science and Technology, Kumasi, GhanaOlugbenga M Ogunlewe - Department of Oral and Maxillofacial Surgery, University of Lagos, Lagos, NigeriaOlutayo James - Department of Oral and Maxillofacial Surgery, University of Lagos, Lagos, NigeriaTaiye Halilu - School of Public Health, Addis Ababa University, Addis Ababa, EthiopiaFirke Abate - School of Public Health, Addis Ababa University, Addis Ababa, EthiopiaLukman O Abdur-Rahman - Division of Pediatric Surgery, Department of Surgery, University of Ilorin, Ilorin, NigeriaAbimbola V Oladugba - Department of Biostatistics, University of Nigeria, Nsukka, NigeriaMary L Marazita - Department of Human Genetics, University of Pittsburgh, Pittsburgh, PennsylvaniaJeffrey C Murray - Department of Pediatrics, University of Iowa, Iowa City, IowaAdebowale A Adeyemo - National Human Genomic Research Institute, Bethesda, MarylandAzeez Butali - Department of Oral Pathology, Radiology and Medicine, University of Iowa, Iowa City, Iowa
- Resource Type
- Journal article
- Publication Details
- Molecular genetics & genomic medicine, Vol.6(6), pp.924-932
- DOI
- 10.1002/mgg3.459
- PMID
- 30141273
- PMCID
- PMC6305633
- NLM abbreviation
- Mol Genet Genomic Med
- ISSN
- 2324-9269
- eISSN
- 2324-9269
- Publisher
- United States
- Grant note
- K99 DE022378 / NIDCR NIH HHS R00 DE022378 / NIDCR NIH HHS R01 DE016148 / NIDCR NIH HHS
- Language
- English
- Date published
- 11/2018
- Academic Unit
- Oral Pathology, Radiology and Medicine; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984065705502771
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