Angelman syndrome is a rare genetic condition characterised by severe learning difficulties and neurological problems. The majority of cases result from a deletion of part of chromosome 15 which usually affects a gene called E6AP, thought to be the primary molecule responsible Angelman syndrome. HERC2 is another gene that is commonly deleted in Angelman syndrome […]
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Paternal deletion of the KCNQ1OT1 ICR results in defective imprinting and recurrent severe Intra-Uterine Growth Restriction
Intra-Uterine Growth Restriction (IUGR) is commonly associated with perinatal morbidity and mortality. Causes are heterogeneous and can be genetic or environmental. The study by De Crescenzo et al. describes a case in which two fetuses conceived by the same couple died in utero with severe growth restriction. The underlying genetic defect consisted of a 60 kb deletion which […]
Pancreatic cancer risk in Peutz-Jeghers syndrome patients; a large cohort study and implications for surveillance
Peutz-Jeghers syndrome (PJS) is a rare disorder known to be associated with an increased cancer risk, including pancreatic cancer. Surveillance of the pancreas might improve the poor prognosis of pancreatic cancer. In this study we determined the risk for pancreatic cancer and cancer in the pancreatic region (including biliary cancer) in patients with PJS. The […]
Mutation in MPDZ causes severe congenital hydrocephalus
Congenital hydrocephalus is an important birth defect where there is abnormal accumulation of fluid within the brain and is often associated with abnormal neurological outcome. Causes of isolated forms of congenital hydrocephalus are many including genetic causes but only two genes have been reported to date (L1CAM and CCDC88C). In this study, the authors add […]
IL12B SNPs and Copy number variation in IL23R gene associate with susceptibility to leprosy
Leprosy,a chronic infectious disease, continues to remain an important health problem in developing countries including India. The susceptibility to leprosy involves strong host genetic components inherited at birth. In a replicative case-control study from India, we identified the genetic variant in a pro-inflammatory IL12B cytokine gene subunit with a strong association with leprosy susceptibility, probably […]
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia
Esophageal atresia (EA) and mandibulofacial dysostosis (MFD) are two congenital malformations which can be part of syndromic conditions, for which several genes have recently been identified. In particular, changes within the EFTUD2 gene, located on the long arm of chromosome 17, have been found in patients presenting with MFD and microcephaly. Until now, no syndrome […]
Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A
Polydactyly is a congenital anomaly observed in humans having additional fingers or toes. The extra digit is a small piece of tissue or a bone without any joint. In majority of cases, these extra digits are incomplete and non-functioning. The extra digit is located on side of the little finger (postaxial), on the side of […]
Identification of a functional variant in the KIF5A- CYP27B1- METTL1- FAM119B locus associated with Multiple Sclerosis
Several polymorphisms localized in a region of chromosome 12 (12q13.3-12q14.1) have been associated with celiac disease, type 1 diabetes, rheumatoid arthritis and multiple sclerosis (MS). This study was focused in finding the causal variant in a sample set of 2876 MS patients and 2910 controls. We uncover a new polymorphism associated with the disease, exhibiting […]
An Italian association study and meta-analysis with previous GWAS confirm WNT4, CDKN2BAS and FN1 as the first identified susceptibility loci for endometriosis
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 […]