Williams-beuren syndrome in a boy with Klinefelter syndrome

Williams-Beuren syndrome, now recognized to be caused by a micro deletion of chromosome 7, is a multisystem disorder with mental retardation and characteristic facial features. On the other hand, Klinefelter syndrome [47, XXY] is now appreciated as being the most common single cause of infertility and hypogonadism. We report a boy; 9 years old, from UAE affected by both disorders. The patient had a characteristic dysmorphic facies, mental retardation, cardiovascular affection and dental anomalies together with relatively small penis and testes. The diagnosis was established and confirmed through chromosomal study and FISH analysis

Association between polymorphisms within tumor necrosis factor genes and the development of bronchial asthma among Egyptian children

Tumor necrosis factor [TNF] is a proinflammatory cytokine that is eminently important in the pathogenesis of bronchial asthma. Bronchial asthma is a frequent respiratory disease characterized by variable airflow obstruction, inflammation of the airways, and bronchial hyper-responsiveness [BHR]. In an effort to find out the polymorphism[s] in genes whose variant[s] have been implicated in asthma phenotypes, we examined the genetic effects of TNF [TNFA and TNFB] polymorphisms on the Egyptian asthmatic children. In this study, skin prick test [SPT], total IgE level, pulmonary functions including FVC, PEF, FEV[1] and FEF[25-75], and bronchial asthma hyper-responsiveness [BHR], were investigated. Sixty asthmatic subjects, as defined by standard MRC respiratory questionnaire, plus 40 healthy controls were genotyped for two common single-nucleotide polymorphisms [SNP] using enzymatic digestion of polymerase chain reaction [PCR]. Asthma was significantly more common in subjects with TNFA-1031C>T [P= 0.007]. Although the SNP containing TNFB+252A>G polymorphism might seem to be excluded in our sample as a cause of the disease [P= 0.6], it was in a very strong linkage disequilibrium with TNFA-1031C>T [P= 0.000002]. All the TNFA-1031C>T genotypes were in a strong association with the severity of the asthma. Incidentally, the LT alpha Ncol-AA [80%] was the most predominant genotype with the severe form. However, someone might predict the severity of asthma and consequently the phenotype of an asthmatic individual by knowing the polymorphism of either the TNFA-1031C>T or even the LT alpha Ncol. These findings may have implications for future early intervention studies by helping to identify infants at increased risk for childhood asthma

Polymorphisms of TAP1/LMP7 loci in Egyptian patients with vitiligo

Vitiligo is a very common, often heritable acquired disorder characterized by well-circumscribed milky white cutaneous macules devoid of identifiable melanocytes. Vitiligo appears to be more commonly observed in parts of the body exposed to the sun and in darker skin types and may develop at any age. Our study contained 47 unrelated Egyptian young-aged vitiligo patients [age range 2-18 y] and 14 healthy volunteers of matched age range. All patients experienced active vitiligo lesions with no signs of other autoimmune disorders. To genotype the TAP1 [C>T intron 7] and LMP7 [G>T intron 6], we amplified the genomic DMA using polymerase chain reaction [PCR] using genomic DNA followed by enzymatic digestion. Our results showed no significant difference between TAP1 C>T [intron 7] and LMP7 G>T [intron 6] alleles and healthy controls [p= 0.3 or 0.5, respectively]. Even so, the odd ratios [ORs] for the genotypes of the TAP1 [C>T] were 1.78 [0.4 to 7.0], 0.8 [0.5 to 1.2], and 1.19 [0.2 to 4.9] for the TAP1-CC, CT, TT-genotypes, respectively. The ORs of LMP7 [intron G>T] genotypes were 1.4 [0.3 to 6.0], 0.8 [0.5 to 1.3], 1.19 [0.3 to 3.6] for GG, GT, and TT, respectively. However, a major contribution of both TAP1 and LMP7 polymorphisms to vitiligo susceptibility cannot be excluded. Further studies of other alleles within the TAP and LMP gene regions in Egyptian patients is recommended to demonstrate a possible role for MHC class I antigen processing and/or presentation pathway in the antimelanocyte autoimmune response in vitiligo pathogenesis