The Experience of a Tunisian Referral Centre in Prenatal Diagnosis of <b><i>Xeroderma pigmentosum</i></b>

Abstract

Aims: Xeroderma pigmentosum (XP, OMIM 278700-278780) is one of the most severe genodermatoses and is relatively frequent in Tunisia. In the absence of any therapy and to better manage the disease, we aimed to develop a molecular tool for DNA-based prenatal diagnosis. Methods: Six consanguineous Tunisian XP families (4 XP-A and 2 XP-C) have benefited from a prenatal diagnosis. Screening for mutations was performed by direct sequencing, while maternal-foetal contamination was checked by genotyping. Results: Among the 7 prenatal diagnoses, 4 foetuses were heterozygous for the screened mutation. Exclusion of contamination by maternal cells was checked. Mutations were detected at a homozygous state in the remaining cases, and the parents decided to terminate pregnancy. Conclusion: Our study illustrates the implementation of prenatal diagnosis for better health support of XP in Tunisia.

Xeroderma Pigmentosum: A Model for Human Premature Aging

“…In addition, patients with XP seen at NIH were recently found to have early onset of thyroid nodules (a 20-year age reduction) detectable by sonogram, and two NIH patients with XP were diagnosed with thyroid cancer (Kouatcheu et al, 2020). This is consistent with previous reports in the literature of thyroid nodules and/or cancers in patients with XPC in the Middle East and North Africa (Ben Rekaya et al, 2013;Hadj-Rabia et al, 2013;Jerbi et al, 2016;Khatri et al, 1992;Messaoud et al, 2013).…”

Clinical and genetic characteristics of xeroderma pigmentosum in Nepal

“…1,9 In the best conditions, genetic analyses may be proposed to patients and families, allowing presymptomatic diagnosis of affected infants as well as antenatal diagnosis and/or counselling for future pregnancy planning. [11][12][13][14] To our knowledge, no study or case reports on XP in Nepal have been published. Prevalent mutations responsible for the disease in Himalayan regions are unknown.…”

“…In contrast, informed patients who benefit from early diagnosis, complete solar protection and access to preventive or early treatment of cancers may have a considerably improved prognosis and quality of life . In the best conditions, genetic analyses may be proposed to patients and families, allowing presymptomatic diagnosis of affected infants as well as antenatal diagnosis and/or counselling for future pregnancy planning …”

Genetics and genomic medicine in Tunisia

“…Since this genodermatosis is relatively common in Tunisia with no available therapy, molecular testing and prenatal diagnosis are very valuable at limiting its occurrence in consanguineous families. Such testing is offered but because of its high cost, only a small number of individuals can benefit from it (Messaoud, Ben Rekaya, et al., ). A patient support group “Helping Xeroderma Pigmentosum children” was established, providing patients with a better ultraviolet protection (http://www.xp-tunisie.org.tn).…”