Our findings implicate a novel deletion of the PITX2 gene in the pathogenesis of ARS in the affected family. This ARS family presented with an atypical and extremely severe phenotype that resulted in four miscarriages and the death at 10 months of age of a sib of the proband. As the phenotypic manifestations in the proband are more severe than that of the father, we hypothesize that the deletion of the entire PITX2 allele plus a novel 2-bp deletion (observed in the proband) within the remaining PITX2 allele together contributed to the atypical ARS presentation in this family. This is the first study reporting on bi-allelic changes of PITX2 potentially contributing to a more severe ARS phenotype.
Background: Recurrent pregnancy loss (RPL) is a major reproductive health issue, affecting 2%–5% of couples. Genetic factors, mainly chromosomal abnormalities, are the most common cause of early miscarriage accounting for 50%–60% of first trimester abortion. Aim: To estimate the prevalence and nature of chromosomal anomalies in couples with recurrent miscarriage. Patients and Methods: This study included 224 couples with a history of 2 or more abortions. Both partners were karyotyped as part of the primary investigation. Cytogenetic analysis was carried out using the standard method. Results: A total of 224 couples with a history of two or more recurrent abortions were enrolled in this study. Chromosomal abnormalities were detected in 26 couples (11.6%) and 28 individuals (6.25%). We found a structural chromosome abnormality in 17/28 patients (60.7%); 12 patients had a reciprocal translocation (42.9%) including one patient with an additional inversion of the Y chromosome, 4 (14.3%) had a Robertsonian translocation, and one patient (3.6%) carried a paracentric inversion of chromosome 2. Numerical chromosome aberrations were detected in 5 patients; three patients (10.7%) with sex chromosome abnormalities and two (7.1%) with a marker chromosome. Six patients (21.4%) showed a heteromorphic variant involving chromosome 9. Conclusion: The prevalence of chromosomal abnormalities in couples with RPL is within the range reported worldwide. Cytogenetic analysis should become an integral part of the investigations of couples with at least two pregnancy losses of undetermined etiology.
Purpose The aim of this study is to evaluate the effect of abnormal semen morphology on the frequency of sex chromosomal abnormalities in embryos obtained by ICSI, which represents the first to be studied in Egyptian population. Methods Forty-two couples suffering from male infertility due to teratozoospermia were divided into two groups: patients with severe and moderate teratozoospermia (group A and B, respectively). All involved couples were subjected to careful history taking and had a normal clinical examination and karyotype. Females were subjected to hormonal assays, pelvic ultrasound, hysterosalpingography and yielded normal results, while male partners were subjected to computerized semen analysis. Preimplantation genetic diagnosis was performed for all suitably developed embryos including embryo biopsy, fixation of biopsied cells and fluorescent in situ hybridization (FISH) analysis. Results Couples included in the two groups were found to be homogenous in terms of age of both partners and duration of infertility. Interpretation of FISH results was performed by evaluation of embryos’ chromosomal constitution as regards abnormalities in chromosomes X, Y and 18. Twenty-seven embryos (48.2%) were found chromosomally abnormal in group A, while only 14 embryos (25.0%) were found chromosomally abnormal in group B. Aneuploidies involved only sex chromosomes were tripled in group A embryos when compared to their frequency in group B embryos (26.8% and 8.3%, respectively) with statistically significant difference between the two groups (p=0.002). Monosomies were the most common type of aneuploidy and were significantly higher in group A (14.3%) when compared to group B (3.6%) (p=0.047). Embryos with mosaic abnormalities were more common in group A (12.5%) when compared to group B (3.6%), however not statistically significantly different (p= 0.162). A significant difference between the two studied groups as regards the total number of potentially viable chromosomal abnormalities detected and the potentially viable sex chromosomal aneuploidies detected (p<0.001 and p=0.002), respectively. Conclusion The cases with severe teratozoospermia undergoing ICSI treatment can display a higher rate of sex chromosome aneuploidies in their embryos (threefold) than cases with moderate teratozoospermia.
PurposeIn the present study, we investigated whether interleukin 1 beta (IL1B) promoter polymorphisms are associated with keratoconus in an Egyptian population and their association with disease severity.MethodsA total of 95 Egyptian keratoconus patients and 126 Egyptian healthy controls were enrolled in the study. Two IL1B single nucleotide polymorphisms (SNPs) (rs1143627 and rs16944) were genotyped using Taqman real-time PCR to compare haplotype, genotype, and allele frequencies between cases and controls (primary outcome) and their association with disease severity (secondary outcome).ResultsStatistically significant association was observed for rs1143627 and rs16944; the T allele of rs1143627 and the G allele of rs16944 were associated with an increased risk of keratoconus (p < 0.001, odds ratio = 3.313, 4.770, respectively). The TT genotype of rs1143627 and the GG genotype of rs16944 were strongly associated with an increased risk of keratoconus (p < 0.001, odds ratio = 5.631, 11.478, respectively). The G allele of rs16944 was associated with an increased curvature of the flattest corneal meridian Kf in keratoconus (p = 0.041). The GG genotype of rs16944 was associated with an increased curvature of the flattest corneal meridian Kf, steepest corneal meridian Ks and average corneal curvature Kavg in keratoconus (p = 0.01, 0.046, 0.023, respectively).ConclusionIL1B is suspected to play a crucial role, both in development and severity of keratoconus in Egyptian population.
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