PTEN hamartoma tumor syndrome (PHTS) encompasses several clinical syndromes with germline mutations in the PTEN tumor suppressor gene, including Cowden syndrome, characterized by an increased risk of breast and thyroid cancers. Because PHTS is rare, data regarding cancer risks are limited. We recruited a significant number of PHTS patients with germline PTEN mutations from the […]
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Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome
Auriculocondylar syndrome (ACS) is characterised by an ear malformation known as a “question mark ear” and variable under-development of the lower jaw. Recently, mutations in two genes, PLCB4 and GNAI3,were identified as the cause of ACS. We identified further mutations in these genes in a series of ACS patients, but not in patients with related […]
Mutations of NANOS1, a human homologue of the Drosophila morphogen, are associated with a lack of germ cells in testes or severe oligo-astheno-teratozoospermia
The genetic causes of infertility are not well understood, while they seem quite frequent. We found that mutations of a gene, NANOS1, are possibly among the causes of human male reproduction failure, as they are in the fruit fly. Depending on location within the gene, these mutations can cause a complete lack of germ cells […]
Breakpoint mapping by Next Generation Sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations
Apparently balanced chromosomal rearrangements (ABCR) are associated with an abnormal phenotype in 6 % of cases. This may be due to the disruption of genes at the breakpoint. However, conventional methods of breakpoint cloning are laborious and time-consuming. Here, we used whole-genome next-generation sequencing (NGS) to rapidly locate breakpoints at the molecular level in four […]
Mutation of HERC2 causes developmental delay with Angelman-like features
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 […]
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 […]