Carrying a mismatch repair gene mutation substantially increases risk of colorectal, endometrial and other cancers (Lynch syndrome). Several criteria have been developed to triage colorectal cancer cases for genetic testing, and several statistical prediction tools have been developed to provide probability of having a mismatch repair gene mutation. We have systematically reviewed each of these […]
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Comparison of the clinical scoring systems in Silver–Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing
Silver-Russell Syndrome is a rare imprinting disorder characterised by fetal and postnatal growth failure and body asymmetry. The spectrum of features is broad and it can be difficult to diagnose clinically. Furthermore, current genetic testing is only positive in about 50% of cases (the genetic basis for the remainder are currently unknown). We have evaluated […]
Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis
The diagnosis of neurofibromatosis type I (NF1) has traditionally rested upon the presence of certain clinical features, including café-au-lait macules and freckling on the skin, and a variety of tumours, particularly neurofibromas. Skin changes are often the earliest manifestation, and therefore of particular significance when assessing people at risk of NF1. A rare, atypical, form […]
A novel statistical approach for RNA-seq data
Xiao Su, Ph.D. Candidate Division of Biostatistics, The University of Texas Health Science Center at Houston, Houston, TX, USA Recently, we published a paper that identifies genes with bimodal expression using next generation RNAseq data [1]. Identifying bimodally expressed genes is very important since such genes can be used to classify diseases and thus […]
CAG-SIZE SPECIFIC RISK ESTIMATES FOR INTERMEDIATE ALLELE REPEAT INSTABILITY IN HUNTINGTON DISEASE
New mutations for Huntington disease occur due to CAG repeat expansion of intermediate alleles. While intermediate alleles (27-35 CAG) usually do not confer the disease phenotype, they are prone to paternal germline CAG repeat instability. Consequently, they may expand into the HD range upon transmission to the next generation producing a new mutation. We report […]
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing
Mutations in at least 17 different genes can cause amyotrophic lateral sclerosis (ALS), and mutations in a further 16 are likely to increase susceptibility. In the most extensive study of its kind, we used modern DNA sequencing to characterize the relative contributions of these 33 disease genes to the risk of developing ALS in Ireland. […]
Confirmation of papillary thyroid cancer susceptibility loci identified by genome-wide association studies of chromosomes 14q13, 9q22, 2q35 and 8p12 in a Chinese population
Four candidate loci, rs965513 (9q22.33), rs944289 (14q13.3), rs966423 (2q35) and rs2439302 (8p12), identified by genome-wide association studies (GWAS) for papillary thyroid cancer (PTC) risk in European population were confirmed in a Chinese population. rs944289 was also associated with an increased benign thyroid tumor risk. The PTC risk of carriers of risk alleles was shown to […]
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing
Leber congenital amaurosis (LCA) is the most severe retinal disease that causes blindness or severe visual impairment within the 1st year of life. Besides the 19 known LCA genes, the association between other known retinal disease genes and LCA has not been systematically studied. Here we report the largest cohort of LCA patients that is […]
Bicuspid aortic valve and aortic coarctation are linked to deletion of the X chromosome short arm in Turner syndrome
Turner syndrome is caused by complete or partial absence of the 2nd X chromosome and affects about 1/2500 females. To localize the region of the X chromosome responsible for congenital heart defects (CHD) in the syndrome, this study compared the prevalence of CHD in groups missing the entire 2nd X to those missing only the […]
Large-scale genotyping identifies a new locus at 22q13.2 associated with female breast size
Individual differences in breast size are a conspicuous feature of variation in human females and have been associated with fecundity and advantage in selection of mates. To identify common variants that are associated with breast size, we conducted a large-scale genotyping study in 7,169 European women across 3 independent sample collections. As it may be […]