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 […]
Latest articles
Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis (Contributed by Professor Ying Liu)
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 (Contributed by Dr. Fowzan S Alkuraya)
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 (Contributed by Bianca J.C. van den Bosch, PhD)
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 (Contributed by Dr. Dorien Peters)
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 […]
Linkage and association analyses of glaucoma related traits in a large pedigree from a Dutch genetically isolated population (Contributed by Prof. Tatiana I. Axenovich)
Despite extensive research on the genetic determinants of glaucoma, the genes identified to date explain only a small proportion of cases in the general population. We performed genome-wide linkage and association analyses of many glaucoma-related quantitative traits. We identified a new region of significant linkage supported by association on chromosome 20p13 (near the SIRPA and […]
CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women (Contributed by Quinten Waisfisz, PhD)
A mutation in the CHEK2 gene causes a 2-fold increased breast cancer risk in female heterozygous carriers. We identified patients from breast cancer families that carried a CHEK2 mutation in both alleles (homozygous). These women have a high breast cancer risk and in addition a severe phenotype with bilateral breast cancer and multiple primary tumours. […]
Genetic basis of pain variability: recent advances (Contributed by Erin Young)
From one person to another, or one mouse strain to another, there is substantial variation in individual reporting of pain intensity and frequency as well as in behaviors indicative of pain. Genetics are responsible for some of this variability: some people inherit genetic mutations that drastically affect the protein made by the gene and make […]
Sex differences in reproductive fitness contribute to preferential maternal transmission of 22q11.2 deletions (Contributed by Dr Anne S Bassett)
22q11.2 deletion syndrome (22q11.2DS) is one of the most common genetic syndromes in humans. For the first time in history, most with 22q11.2DS are living to adulthood, and there is a 1 in 2 chance of passing on the condition to a child. We compared the number of children born to adults with 22q11.2DS with […]
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein–Taybi syndrome (Contributed by Dr. Angel Barco)
Rubinstein-Taybi syndrome (RSTS) is a neurodevelopmental disorder associated to mental retardation and caused by mutations in the genes CREBBP and EP300 encoding for the transcriptional regulators CBP and p300, respectively. These proteins regulate the acetylation state of the chromatin and consequently affect gene expression. Previous studies have shown that neuronal histone acetylation is reduced in […]