TBC1D24-related familial infantile multifocal myoclonus: Description of a new Chinese pedigree with a 20 year follow up.

Introduction: Disorders associated with mutations in the Tre2/Bub2/Cdc16 (TBC)1 domain family member 24 gene (TBC1D24) present a wide range of phenotypes, ranging from mild to fatal seizure diseases, non-syndromic deafness, and complex syndromes such as deafness, onychodystrophy, osteodystrophy, and mental retardation(DOOR syndrome). In this study, we introduce three siblings of a previously unreported Chinese family with familial infantile myoclonic epilepsy caused by a homozygous TBC1D24 mutation.

Methods: Genomic DNA was extracted from whole blood of the proband, his parents, and sisters.

Tuberous Sclerosis Complex in Chinese patients: Phenotypic analysis and mutational screening of TSC1/TSC2 genes.

Purpose: Tuberous sclerosis complex (TSC) is characterized by the development of hamartomas in multiple organ systems. This study attempted to screen mutations and to investigate the mutation distribution and related phenotypes including epilepsy of Chinese TSC patients.

Methods: We performed the genotypic analysis of TSC1 and TSC2 genes in 77 unrelated Chinese TSC patients using direct Sanger sequencing and Multiplex ligation-dependent probe amplification (MLPA).

A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population.

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare hereditary cerebral artery disease. The HtrA serine protease 1 (HTRA1) gene has been identified as the causative gene of CARASIL. Here, we report a novel mutation in the HTRA1 gene in a CARASIL pedigree and explore its pathogenesis at the protein level.

[Prevalence of CYP2C19 polymorphisms involved in clopidogrel metabolism in Fujian Han population].

Objective: To investigate the frequency of CYP2C19 polymorphisms involved in clopidogrel metabolism in Fujian Han population.

Methods: Frequencies of CYP2C19* 2, CYP2C19*3 and CYP2C19*17 in 1001 unrelated Fujian Han volunteers were determined with polymerase chain reaction-restriction fragment length polymorphism and direct sequencing method.

Results: The frequencies of CYP2C19*2, *3 and *17 were 32.