Due to familial aggregation of endometriosis, knowing the genetic risk factor associated with this disease would be helpful to set up primary prevention measures. However, so far, no candidate genes for the disease have been consistently replicated in different populations. We have genotyped, in an Italian population, four genetic variants that resulted associated with endometriosis […]
Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus
Hydrocephalus is an abnormal expansion of brain cavities (ventricles) resulting from the accumulation of cerebrospinal fluid. It can cause severe motor and intellectual deficiency. Some cases result from an inherited, genetic defect, and a mutation of the CCDC88C gene has been associated with hydrocephalus in one family. We report two families with multiple cases of hydrocephalus […]
Risk of malignant paraganglioma in SDHB-mutation and SDHD-mutation carriers: a systematic review and meta-analysis
Germline mutations in, a.o., subunits B and D of the succinate dehydrogenase (SDH) gene are significant causes of inherited paragangliomas (PGLs) and distinct genotype-phenotype associations have been described. Although malignant disease seems largely associated with SDHB-mutations, the actual risk of developing malignant PGL in SDHB– and SDHD-mutation carriers is subject of debate. To provide newly […]
Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna Hereditary Hypotrichosis
Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant disorder characterized by coarse, wiry, twisted hair developed in early childhood. The authors identified EPS8L3 as a disease gene for MUHH by combining exome sequencing with previously established linkage information in a large multi-generation MUHH family of Chinese population. Our results were very valuable and shed […]
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
This paper reports data from large North American and European cohorts that were ascertained for the 16p11.2 deletion (break points 4-5) without regard to age or diagnosis. The deletion was previously reported to be among the most frequent known genetic etiologies of autism spectrum disorder and related neurodevelopmental disorders. Here the authors describe the medical, neuropsychological and behavioral […]
De novo copy number variants are associated with congenital diaphragmatic hernia
Congenital diaphragmatic hernia (CDH) is a common birth defect with significant morbidity and mortality. In this study, we used karyotypes and chromosome microarray analysis in 256 parent-child trios to investigate the frequency of chromosomal anomalies and de novo copy number variants in CDH patients. Sixteen (6.3 %) of the patients had cytogenetic anomalies including 3 […]
Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia
Familial Hypercholesterolaemia (FH) is one of the most commonly inherited autosomal dominant diseases. It affects roughly one in every 500 people, and leads to premature coronary heart disease, but can be well treated with lipid lowering agents such as statins. It is recommended that DNA based tests should be used to cascade-test relatives of FH […]
Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation
Osteogenesis imperfecta or brittle bone disease is usually caused by mutations in one copy (dominant) or two copies (recessive) of a number of genes. In order to search for additional disease genes, we enrolled 13 consanguineous families with brittle bone disease and found that three of them map to a novel genetic region which we […]
A balanced translocation truncates Neurotrimin in a family with intracranial and thoracic aortic aneurysm
We have been investigating families with naturally occurring chromosomal breaks as a shortcut to localize disease genes. We present here a family with a history of cerebral hemorrhages and aortic ruptures, demonstrating that a chromosomal break truncates the Neurotrimin gene on chromosome 11 in this family. The family samples were gathered as a part of […]
Distinct and replicable genetic risk factors for acute respiratory distress syndrome of pulmonary or extrapulmonary origin
While differences in lung dysfunction and pathophysiological characteristics of ARDS/ALI from pulmonary and extrapulmonary sources have been intensively investigated, the role of genetic variants underlying these possible differences has not been thoroughly explored. Our data and its replication in three critically ill populations suggest that different injury-related genetic variants may contribute to susceptibility to ARDS/ALI […]