Tubular aggregate myopathies (TAM) are progressive muscle disorders characterized by abnormal accumulations of densely packed membrane tubules on biopsies. The implicated gene STIM1 controls intracellular calcium balance and plays an important role in the regulation of muscle contraction. Here we describe patients with new STIM1 mutations clustering the calcium-binding domain and impairing normal protein function. […]
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OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium (Contributed by Dr. Ajoy Vincent)
Pattern dystrophy (PD) of the retinal pigment epithelium is a slowly progressive genetically heterogeneous autosomal dominant disorder. As the name suggests, the disease manifests as changes in the retina that display a certain ‘pattern’. We performed genetic analyses in two families with PD; different approaches that included linkage analysis and whole exome sequencing were used. […]
Defining and managing incidental findings in genetic and genomic practice (Contributed by Dr Sandi Dheensa)
Our review explored questions about the management and disclosure of incidental genomic findings—those discovered through whole-genome approaches, but unrelated to the question that was asked. We have discussed the various terms used for such findings; factors that determine disclosure; differences in clinical, research and commercial settings; and ethical/practical issues about familial implications and re-contacting testees. […]
Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis (Contributed by Dr. Hongzhou Cui)
This study identified a SLC17A9 missense variant c.932G>A in a DSAP family by exome sequencing. The c.25C>T variant in additional family supported an important role of SLC17A9 in DSAP. SLC17A9 encoded a vesicular nucleotide transporter (VNUT), which contributed to ATP vesicle formation and ATP release regulation. The two identified variants located in major facilitator superfamily […]
The 2014 International Conference on Intelligent Biology and Medicine
The 2014 International Conference on Intelligent Biology and Medicine (ICIBM 2014) will be held on December 4-6, 2014 in San Antonio, TX, USA. Submissions are invited with unpublished original work describing recent advances on all aspects of Bioinformatics, Systems Biology and Intelligent Computing, including, but not restricted to the following topics: Bioinformatics: •Genomics And […]
Genotype phenotype associations across the voltage-gated sodium channel family (Contributed by Dr Andreas Brunklaus)
Mutations in genes which code for sodium ion channel proteins have emerged as the most important genetic factors associated with epilepsy, cardiac rhythm disorders, skeletal muscle channelopathies and pain disorders. Geneticists in partnership with neurologists and cardiologists are often asked to comment on the clinical significance of specific mutations. Comparing over 1300 sodium ion channel […]
Titin and desmosomal genes in the natural history of arrhythmogenic right ventricular cardiomyopathy (Contributed by Drs. Francesca Brun and Luisa Mestroni for the authors)
Our study investigated the relationship between rare gene variants, clinical features and natural history in arrhythmogenic right ventricular cardiomyopathy. In particular, we explored the phenotype and outcome of rare variant carriers of the giant gene titin and desmosomal genes in a cohort of families with a long-term follow-up, up to 22 years. We found that […]
The clinical significance of small copy number variants in neurodevelopmental disorders (Contributed by Prof. Anita Rauch)
The majority of neuro-developmental disorders (NDDs) such as intellectual disability are likely due to alterations in the genome. It has been shown that about 30% of these patients have losses or gains of large segments of the genome containing many genes or whole chromosomes as in trisomy 21. In this study, we evaluated the contribution […]
Comprehensive genotype phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation (Contributed by Ngoc Minh Phuong Nguyen)
Hydatidiform mole (HM) is a human pregnancy with no embryo, but excessive trophoblastic proliferation. Maternal recessive mutationsin NLRP7 are responsible for recurrent HMs, which are characterized by diploid biparental genomes, abnormal DNA methylation, and absence of p57Kip2 expression, the protein coded by the imprinted CDKN1C gene. In this study, we demonstrate a strong correlation between […]
Genetic architectures of ADME genes in five Eurasian admixed populations and implications for drug safety and efficacy (Contributed by Dr. Shuhua Xu)
The genetic heterogeneity can lead to heterogeneous drug responses among individuals, such as less efficacy or unwanted side effects of drug therapy. Moreover, the ethnic/genetic diversity also affects the effective prescription. Here, we investigated the genetic diversity of 282 ADME genes in five northwestern Chinese minority populations which are all admixed people with ancestry contributions […]