دورية أكاديمية
Molecular genetic characterization of Congolese patients with oculocutaneous albinism.
| العنوان: | Molecular genetic characterization of Congolese patients with oculocutaneous albinism. |
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| المؤلفون: | Laetitia, Mavinga Mpola, Veronique, Kakiese, Mamy, Ngole Zita, Cathy, Songo Mbodo, Lumaka Zola, Aimé, Race, Valerie, Prosper, Lukusa Tshilobo, Devriendt, Koenraad |
| المصدر: | European Journal of Medical Genetics, 65 (11), 104611 (2022-11) |
| بيانات النشر: | NLM (Medline), 2022. |
| سنة النشر: | 2022 |
| مصطلحات موضوعية: | DRCongo, Melanin, OCA, OCA2 gene, Membrane Transport Proteins, Cross-Sectional Studies, Democratic Republic of the Congo/epidemiology, Humans, Molecular Biology, Mutation, Albinism, Oculocutaneous/genetics, Membrane Transport Proteins/genetics, Albinism, Oculocutaneous, Democratic Republic of the Congo, Genetics, Genetics (clinical), General Medicine, Life sciences, Genetics & genetic processes, Human health sciences, Dermatology, Pediatrics, Sciences du vivant, Génétique & processus génétiques, Sciences de la santé humaine, Dermatologie, Pédiatrie |
| الوصف: | [en] BACKGROUND: Oculocutaneous albinism (OCA) is an autosomal recessive genetic disorder associated with reduced or absent pigmentation in the skin, hair and eyes. OCA type 2 (OCA2) is the most common type in Sub-Saharan Africa, related to a recurrent 2.7 kb intragenic deletion. Genomic data from Congolese patients are lacking. We aimed to describe genetic causes of OCA2 in a cohort of Congolese persons with OCA, and explore possible genotype-phenotype correlations.METHODS: A cross sectional study was conducted from January 2015 to December 2017 in Kinshasa, Democratic Republic of Congo (DRC). 165 Congolese unrelated families with non-syndromic OCA, identified through patients' associations, consented to participate to this study. All index cases were tested for the known 2.7 kb deletion involving the exon 7 of the OCA2 gene. Patients heterozygous for the deletion underwent Sanger sequencing of all exons and flanking sequences in the OCA2 gene. Family segregation was performed for candidate pathogenic variants.RESULTS: The 2.7 kb deletion in the OCA2 gene was identified in 136/165 (82.4%) index cases, including 113 (68.5%) homozygotes and 23 (13.9%) heterozygotes. Sanger sequencing identified a pathogenic or likely pathogenic variant in the OCA2 gene in 12 out of 23 heterozygotes investigated (52.1%). Segregation analysis allowed us to locate the point mutation on the trans allele in the three patients from whom parental DNA was available.CONCLUSION: The OCA2 2.7 kb deletion is the major cause of non-syndromic OCA in Congolese patients recruited in this study, confirming results from other Sub-Saharan African populations. Several additional mutations were detected in OCA patient's heterozygote for the deletion, with to date no evidence for a second frequent founder mutation. The confirmation of a single mutation as the major cause will facilitate genetic counselling in this country. |
| نوع الوثيقة: | journal article http://purl.org/coar/resource_type/c_6501 article peer reviewed |
| اللغة: | English |
| Relation: | https://api.elsevier.com/content/article/PII:S1769721222001926?httpAccept=text/xml; 10.1016/j.ejmg.2022.104611; urn:issn:1769-7212; urn:issn:1878-0849 |
| DOI: | 10.1016/j.ejmg.2022.104611 |
| URL الوصول: | https://orbi.uliege.be/handle/2268/299600 |
| حقوق: | open access http://purl.org/coar/access_right/c_abf2 info:eu-repo/semantics/openAccess |
| رقم الأكسشن: | edsorb.299600 |
| قاعدة البيانات: | ORBi |
| DOI: | 10.1016/j.ejmg.2022.104611 |
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