We report two brothers of Chinese origin who have an apparently unique syndrome of cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. Additional findings which were not common to both were aberrant digital appendages on the heel and thigh of one boy and an anterior sacral meningocele and dislocated hip in the other. Intelligence is normal in both. Both boys suffer from func...

Abstract Objective Retinoschisis and Norrie disease are X-linked recessive retinal disorders caused by mutations in RS1 NDP genes respectively. Both likely to be monogenic no locus heterogeneity has been reported. However, there reports showing overlapping features of retinoschisis a knock-out mouse model also the involvement both patients. Yet, exact molecular relationships between two have st...

Majority of 37 human aminoacyl tRNA synthetases have been incriminated in diverse, mostly recessive, genetic diseases. In accordance with this, we uncovered a novel homozygous valyl-tRNA synthetase 1 (VARS1) gene variant, leading to p.T1068M mutation. As the previously reported VARS1 mutations, affected individual harboring was experiencing neurodevelopmental disorder intractable seizures, psyc...

objective(s): genetic analysis of two consanguineous pakistani families with localized autosomal recessive hypotrichosis was performed with the goal to establish genotype-phenotype correlation. materials and methods: genomic dna extraction had been done from peripheral blood samples. extracted dna was then subjected to pcr (polymerase chain reaction) for amplification. linkage analysis was perf...