Background: A rare neuro-ichthyotic disorder characterized by ichthyosis, spastic quadriplegia and intellectual disability and caused by recessive mutations in ELOVL4, encoding elongase-4 protein has recently been described. The objective of the study was to search for sequence variants in the gene ELOVL4 in three affected individuals of a consanguineous Pakistani family exhibiting features of neuro-ichthyotic disorder. Methods: Linkage in the family was searched by genotyping microsatellite markers linked to the gene ELOVL4, mapped at chromosome 6p14.1. Exons and splice junction sites of the gene ELOVL4 were polymerase chain reaction amplified and sequenced in an automated DNA sequencer. Results: DNA sequence analysis revealed a novel homozygous nonsense mutation (c.78C > G; p.Tyr26*). Conclusions: Our report further confirms the recently described ELOVL4-related neuro-ichthyosis and shows that the neurological phenotype can be absent in some individuals.

The purpose of this study is to investigate the effect of locally isolated Lactobacillus strains on the degradation of calcium oxalate and calcium phosphate using in vitro analysis. Ten different bacterial strains are isolated from various sources including yogurt, Indian-pickle, rhizosphere and plant root tissue. Results shows that the most efficient strains of Lactobacillus are those isolated from the fermented food sources. L-HMY2 proved to be the most effective strain for the biodegradation of calcium salts (PSI =2.88, OSI = 2.65, pH decrease up to 4.32, EC of calcium phosphate broth = 1366 mS cm?1 and Ca contents in calcium phosphate broth = 187 mg L?1). Moreover, Lactobacilli strains are more effective for the degradation of calcium phosphate than calcium phosphate. This study concludes that these indigenous strains of Lactobacillus are potential candidates for probiotic properties for the preclusion of kidney stone formation and this avenue should be further explored.