An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3

Background Single-gene disorders related to ischemic stroke seem to be an important cause of stroke in young patients without known risk factors. To identify new genes responsible of such diseases, we studied a consanguineous Moroccan family with three affected individuals displaying hereditary leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa that appears to segregate in autosomal recessive pattern. Methods All family members underwent neurological and radiological examinations. A genome wide search was conducted in this family using the ABI PRISM linkage mapping set version 2.5 from Applied Biosystems. Six candidate genes within the region linked to the disease were screened for mutations by direct sequencing. Results Evidence of linkage was obtained on chromosome 17q24.2-25.3. Analysis of recombination events and LOD score calculation suggests linkage of the responsible gene in a genetic interval of 11 Mb located between D17S789 and D17S1806 with a maximal multipoint LOD score of 2.90. Sequencing of seven candidate genes in this locus, ATP5H, FDXR, SLC25A19, MCT8, CYGB, KCNJ16 and GRIN2C, identified three missense mutations in the FDXR gene which were also found in a homozygous state in three healthy controls, suggesting that these variants are not disease-causing mutations in the family. Conclusion A novel locus for leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa has been mapped to chromosome 17q24.2-25.3 in a consanguineous Moroccan family

Knowledge, attitudes, and practice of organ donation in Morocco: A cross-sectional survey

In any health system, public awareness of organ donation fundamentally affects the organ transplantation programs. The aim of this study was to evaluate the knowledge and perception of the people in Morocco toward organ donation as well as to identify the reasons and determinants for refusal of organ donation. This opinion survey included a representative sample of 2000 participants in Morocco, and data related to sociodemographic characteristics, knowledge and self-opinion about organ donation, and reasons behind refusal were collected. Statistical analysis showed that 55.2% of the participants were women, the median age was 21 years, and 60.8% of included participants had secondary education. Almost two-thirds of surveyed participants (62.3%) showed a low to mid-level of knowledge about organ donation and transplantation in Morocco. About half of the interviewed participants (48.8%) refused to donate their organs. Concern about risk of medical error and the belief in trafficking of procured organs were the main reasons for refusal, seen in 66% and 62% of the interviewees, respectively. Univariate and multivariate logistic regression models showed that the older, the less educated and the less informed a person is, the less he accepted organ donation. Therefore, promotion of organ donation in Morocco should involve a regular information and awareness among the general population