Non-classical human leukocyte antigen class I in Tunisian children with autism

Autism spectrum disorders (ASD) are one of the most common childhood morbidities characterized by deficits in communication and social skills. Increasing evidence has suggested associations between immune genes located in the human leukocyte antigen (HLA) complex and etiology of autism.In this study, we investigated whether the non-classical class I HLA-G, -E, and -F polymorphisms are associated with genetic predisposition to autism in Tunisia. We aimed to find a correlation between HLA-G genotypes and soluble HLA-G (sHLA-G) levels. We have analyzed the HLA-G, -E, and -F genotypes of 15 autistic children and their parents. DNA typing of HLA class I genes was performed using PCR-SSP and PCR-RFLP methods. Also, we evaluated the serum levels of HLA-G (1 and 5) by a validated ELISA technique in autistic probands and their parents.No association was found between any polymorphism and autism in the study subjects. Additionally, we found no correlation between sHIA-G1 and sHLA-G5 and autism. Also, no significant difference in sHIA-G testing in parents and offspring was found. However, parents carrying [GG] genotype presented a higher sHLA-G levels than those carrying ([CC]+[GC]) genotypes (p = 0.037).From this preliminary study, we conclude that the investigated polymorphisms of HLA-G, -E, and -F genes did not lead to autism susceptibility in Tunisian children. However, the CGTIGA haplotype was found to be associated with the disease

Thrombosis-Related DNA Polymorphisms

Venous and arterial thrombosis are complex disorders involving several genetic inherited thrombotic and environmental risk factors as well as many mechanistic pathways including those of hemostatic, inflammatory and oxidative homeostasis. To provide an overview of genetic polymorphisms associated with thrombotic disorders, we studied related pathways and mechanisms of venous and arterial thrombosis along with their genetic polymorphisms in association with their clinical significance. We considered classical polymorphisms in the coagulation pathway factors, particularly the thrombophilia predisposition factors: Factor V, Prothrombin and MTHFR as well as PROC, PROS and antithrombin III. Other known and novel genetic polymorphisms having an impact on the pathogenesis of and the susceptibility to venous and/or arterial thrombotic disorders, in particular those involving inflammatory, immune and oxidant/antioxidant/redox signaling systems, were reviewed

Novel combined UGT1A1 mutations in Crigler Najjar Syndrome type I

Background Uridine diphosphate-glucuronosyl transferase 1A1 (UGT1A1), which is the major UGT1 gene product, is located on chromosome 2q37. The expression of UGT1A1 is relatively managed by a polymorphic dinucleotide repeat inside the promoter TATA box consisting of 5-8 copies of a TA repeat. A (TA) 6TAA is considered as the wild type. The A (TA) 7TAA allele has been identified as the most frequent allele in the Caucasian populations while A (TA) 8TAA allele remains the rarest allele worldwide in North Africa, including the Arab populations. Methods The spectrum of UGT1A1 genetic mutations in seventeen Tunisian children affected by persistent unconjugated hyperbilirubinemias is represented in addition to their relatives, notably parents, sisters, and brothers. Tunisian children, from 16 unrelated families as well as a 17(th) family without CN1 affected child, were originated from the West Center of Tunisia. The promoter region and coding exons of the UGT1A1 were PCR amplified, subsequently subjected to Sanger sequencing. Results The frequencies of genotypes in CN1 patients were as follows (TA) (7/7) (12/17: 70.6%) and (TA) (8/8) (5/17: 29.4%). All patients harbored the c.1070A&amp;gt;G mutation of exon 3 (UGT1A1*16) in the homozygous state. Among relatives of our patients (n = 16), who were all heterozygotes for UGT1A1*16, 13/16 (81.25%) had a heterozygous state for UGT1A1*1/UGT1A1*28 or (TA) (6/7) and, 18.75% (3/16) were heterozygous for UGT1A1*28/UGT1A1*37 or (TA) (7/8) of the promoter polymorphisms. Conclusion UGT1A1*16 accompanied with UGT1A1*28 or UGT1A1*37 had a specific geographic and ethnic distribution for CN pathogenesis in this Tunisian cohort.Funding Agencies|Tunisian government program "Federated research project [PRF2017D3P1]; Ministry of Higher Education and Scientific Research</p

Fluorescent In Situ Hybridization, Psychological, and Psychiatric Studies in Children With Supravalvular Aortic Stenosis

International audienceObjective. To estimate the frequency and investigate the clinical features of 7q11.23 microdeletion in unselected patients with supravalvular aortic stenosis, a total of 7 patients originating from the south of Tunisia were evaluated prospectively by molecular cytogenetic studies. Methods. The clinical analysis was performed according to a specific clinical protocol for the diagnosis of congenital cardiovascular malformations. Cytogenetic analysis with RHG banding was used to detect chromosome rearrangements. Cytogenetic molecular analysis was undertaken using one probe: LSI Williams-Beuren Syndrome (WBS) region probe D7S486/D7S522. For the 3 patients carrying a 7q11.2 microdeletion, psychological and psychiatric tests were performed. Results.-All patients had normal karyotype 46,XX or 46,XY. Three patients were found to have a 7q11.2 deletion, whereas all of them had clinically typical WBS features. Conclusions: The clinical observation noted in this study emphasizes the need for more detailed phenotypic studies in patients and their families, We have seen a wide range of phenotypes associated with a deletion at the elastin locus in this series