Micro and Martsolf syndromes are rare clinically and genetically overlapping disorders caused by mutations in RAB3GAP1, RAB3GAP2, RAB18 and TBC1D20 genes. We describe 34 new patients, 27 with Micro and seven with Martsolf. Patients presented with the characteristic clinical manifestations of the two syndromes, including postnatal microcephaly, congenital cataracts, microphthalmia, optic atrophy, spasticity and intellectual disability. Brain imaging showed in the majority of cases polymicrogyria, thin corpus callosum, cortical atrophy, and white matter dysmyelination. Unusual additional findings were pectus excavatum (four patients), pectus carinatum (three patients), congenital heart disease (three patients) and bilateral calcification in basal ganglia (one patient). Mutational analysis of RAB3GAP1 and RAB3GAP2 revealed 21 mutations, including 14 novel variants. RAB3GAP1 mutations were identified in 22 patients with Micro, including a deletion of the entire gene in one patient. On the other hand, RAB3GAP2 mutations were identified in two patients with Micro and all Martsolf patients. Moreover, exome sequencing unraveled a TBC1D20 mutation in an additional family with Micro syndrome. Our results expand the phenotypic and mutational spectrum associated with Micro and Martsolf syndromes. Due to the overlapped severities and genetic basis of both syndromes, we suggest to be comprehended as one entity "Micro/Martsolf spectrum" or "RAB18 deficiency."

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Background Recent research proposed an association between functional defects involving CHEK2 I157T and SULT1A1 R213H variants and increased incidence of several types of cancer. A total of 86 unrelated colorectal cancer patients attending the Surgical Oncology Department were recruited in the study. The second group of 152 healthy age- and sex-matched volunteers were included as controls. Polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) was applied for genotyping. Chi-square test was applied to compare genotype and allele frequencies in the studied groups. The purpose of the present study was to evaluate the association between CHEK2 I157T and SULT1A1 R213H polymorphisms and colorectal cancer. Results No significant differences in genotypes were detected between cases and controls in the present study for both CHEK2 I157T and SULT1A1 R213H polymorphisms (χ2 = 1.839; P = 0.399/χ2 = 2.831; P = 0.243), respectively. Likewise, discrepancies in allele frequency for the wild-type or mutant alleles were non-statistically significant in CHEK2 I157T and SULT1A1 R213H (χ2 = 1.231; P = 0.267/χ2 = 0.180; P = 0.671), respectively. Conclusions Results of the current study propose that CHEK2 I157T and SULT1A1 R213H polymorphisms are not associated with CRC development in Egyptian population. Further future studies on the functional implications of these polymorphisms are strongly recommended.

Objectives: Diabetic retinopathy (DR) is one of the most common microvascular complications of type 2 diabetes mellitus (T2DM). It is multifactorial with the contribution of multiple genetic factors. We questioned the association of polymorphisms in the peroxisome proliferator-activated receptor ɣ2 (PPARɣ2) gene (Pro12Ala and C161T) with DR in an Egyptian population. Methods: This case control study included one hundred healthy individuals and 252 T2DM among them 122 with DR and 130 without DR. Genotyping was done by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). Results: The Pro12Ala Ala allele was associated with decreased risk of DR with an odds ratio (OR) of 0.484, 95% confidence interval (CI) (0.254-0.920), and a p value = 0.024. The C161T T allele was associated with increased risk of DR with OR = 2.593, 95% CI (1.672-4.020), p < 0.001. However, when considering other covariates such as glycosylated hemoglobin (HbA1c) in multivariate regression analysis only C161T was associated with increased risk of DR with OR = 3.479, 95% CI (1.907-6.346), p < 0.001, while the significant association with Pro12Ala was lost. HbA 1c was higher in Pro/Pro genotype when compared to those with