Novel mutations in Sandhoff disease: a molecular analysis among Iranian cohort of infantile patients

Sandhoff disease is an autosomal recessive disorder caused by beta-hexosaminidase deficiency and accumulation of GM2 ganglioside resulting in progressive motor neuron manifestations and death from respiratory failure and infections in infantiles. Pathogenic mutations in HEXB gene were observed which leads to enzyme activity reduction and interruption of normal metabolic cycle of GM2 ganglioside in Sandhoff patients. Six infantile index patients with typical biochemical and clinical picture of the disease were studied at the molecular level. After DNA extraction and amplification, probands and their parents, were evaluated by direct sequencing of amplicons. We identified 7 different mutations among which 4 were novel. The most prevalent finding [50%] among our population was a 16 kb deletion including the promoter and exons 1-5. The other findings included c.1552delG and c.410G>A, c.362 A>G, c.550delT, c.1597c>T, c.1752delTG. We conclude that Cysl37Tyr and R533C mutations may be pathogenic because of changing amino acid and locating at the conserved region and also they have not been observed in hundred controls. Besides, four mutations including: Cysl37Tyr, c.1552delG, c.1597c>T and c.550delT fulfilled almost criteria for pathogenic mutation

Tinea capitis: a family problem

To determine the frequency of a positive family history of dermatophytosis and the presence of a separate focus of dermatophytic infection in patients with tinea capitis. A prospective, cross-sectional study. A total of 100 patients with mycologically proven tinea capitis were examined, and a family history was taken of dermatophytic infections in family members. Clinical and mycological examinations of index cases as well as of affected family members were carried out. Department of Dermatology, Mayo Hospital/King Edward Medical College, Lahore. Sixty eight patients [68%] had a positive family history of dermatophytosis and 17 [17%] had a focus of dermatophytic infection other than tinea capitis. A family history of tinea capitis or other dermatophytosis is a frequent accompaniment, in patients with tinea capitis. Also, some patients have another focus of dermatophytic infection in addition to the tinea capitis. These factors may serve as course of infection in the patient as well as in the family and community