Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary muscle disease affecting approximately 1 in 20,000 individuals. The genetic defect associated with FSHD does not reside in any protein-coding gene. Instead, FSHD had previously been correlated with a specific set of DNA variations (termed haplotype) at 4q35. Using genetic and clinical information from the Italian National Registry […]
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Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression
Paroxysmal dyskinesias (PD) are a group of neurological disorders with episodes of involuntary movements that can be classified into three main categories: paroxysmal kinesigenic dyskinesia (PKD) , paroxysmal exercise induced dyskinesia (PED) and paroxysmal nonkinesigenic dyskinesia(PNKD). Interestingly, PDs may be variably associated with epilepsy. Description of familial infantile convulsions with paroxysmal choreoathetosis (ICCA) and its […]
Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy.
Mitochondrial disorders are a significant cause of morbidity and mortality in the population. Here, we describe an adult patient with autosomal recessive myopathy and cardiomyopathy resulting from a complete loss of expression of the ADP/ATP translocase 1 (ANT1), a mitochondrial molecule which mediates ADP/ATP exchange between cytosol and mitochondria through the inner mitochondrial membrane. Skeletal […]
A bias-reducing pathway enrichment analysis of genome-wide association data confirmed association of the MHC region with schizophrenia
Complex diseases are often caused by many genetic markers or genes, thus, pathway-based or gene-based analysis of genome-wide association study (GWAS) data becomes an important approach to studying the underlying molecular mechanisms. A critical issue in this approach is the gene length bias – long genes tend to have more SNPs investigated and, thus, have […]
A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation
The concept of the testicular dysgenesis syndrome (TDS) suggests that male infertility, cryptorchidism, hypospadias, impaired spermatogenesis and testicular germ cell cancer often have a common origin. In a systems biology framework, by combining a genome-wide association study with gene expression and mouse knock-out data to study the genetic components that predispose to TDS, we identified […]
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study
We undertook genetic analysis of individuals with Usher syndrome; this is a genetic recessive disorder consisting of visual impairment leading to blindness, congenital deafness, and sometimes balance problems. We sequenced all the 9 genes known to cause Usher to date in all of the subjects, who were from a wide variety of ethnic backgrounds. We […]
Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis
Paroxysmal kinesigenic choreoathetosis (PKC), firstly reported in 1967, is characterized by recurrent and brief attacks of involuntary movement and causative gene remains unidentified. Using targeted genomic sequencing and conventional Sanger sequencing, the authors identified a spectrum of mutations in proline-rich transmembrane protein 2 (PRRT2). PRRT2 mutations cause only a subset of PKC, which suggests that […]
Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation
Split Hand and Foot Malformation (SHFM) is a birth defect characterized by claw-like appearance of hands and feet. Several genomic regions have been implicated in the causation of SHFM but SHFM1 is one of the most puzzling among these because despite its frequent involvement in genomic rearrangements, the compelling candidate genes DLX5/DLX6 in that region […]
Defective NDUFA9 as a novel cause of neonatally fatal complex I disease
Mitochondrial disorders are associated with abnormalities of the oxidative phosphorylation (OXPHOS) system and cause significant morbidity and mortality in the population. The genetic cause remains still unknown in a large part of patients with mitochondrial disease. Here we report the first disease-causing mutation in the complex I subunit encoding NDUFA9 gene, which was identified in […]
Neonatal onset Autosomal Dominant Polycystic Kidney Disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is characterized by progressive development of fluid-filled cysts in both kidneys. Cyst formation causes chronic renal failure beyond mid-life eventually leading to end-stage renal failure. Heterozygous mutations in the polycystic kidney disease 1 (PKD1) gene and polycystic kidney disease 2 (PKD2) gene account for almost all cases and although […]