Ciliopathies are a group of disorders caused by primary cilium dysfunction and characterized by substantial genetic and phenotypic heterogeneity. Establishing genotype-phenotype correlations is critical for directing clinical genetic testing, informing medical management, and interpreting variants identified by genome-wide sequencing technologies. This study reports the spectrum of CC2D2A mutations in CC2D2A-related Joubert syndrome and identifies an […]
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The phenotypic spectrum of the SMAD3-related Aneurysms-Osteoarthritis Syndrome (AOS)
Arterial aneurysms are associated with a high morbidity and mortality. Some arterial aneurysms are inherited and due to mutations in different genes in the TGFB signal transduction pathway. We recently identified a new genetic syndrome with arterial aneurysms associated with early-onset osteoarthritis (Aneurysms-Osteoarthritis Syndrome). This new syndrome is caused by mutations in the SMAD3 gene, […]
The rs12975333 variant in the miR-125a and breast cancer risk in Germany, Italy, Australia and Spain
We all have the same genes; however, DNA mutations within genes, inherited from parents and transmitted to children, together with environmental factors, make us all different. Some mutations increase the risk of developing diseases with respect to general population. Recently, the mutation rs12975333 has been “associated with increased breast cancer risk” in the population of […]
Mutations in the Mitochondrial Complex I Assembly Factor NDUFAF1 Cause Fatal Infantile Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy (HCM) describes abnormal thickening and dysfunction of heart muscle. It is a severe disorder and affected children frequently die of heart failure in infancy. Mitochondria are ‘batteries’ responsible for energy production inside most human cells. Mitochondrial disease can cause infantile-onset HCM by impairing energy production inside heart muscle cells. It is very difficult […]
Setleis Syndrome in Mexican-Nahua Sibs Due to a Homozygous TWIST2 Frameshift Mutation and Partial Expression in Heterozygotes: Review of the Focal Facial Dermal Dysplasias and Subtype Reclassification
Setleis syndrome, a type of focal facial derma dysplasia (FFDD), is a genetic abnormality involving fetal development of the face. Setleis syndrome may have several genetic causes, but two mutations in the TWIST2 gene have been identified previously. Patients are born with scar-like, “forcep” marks in their temporal regions along with other syndromic features. […]
AKAP9-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium
We have combined data from 23 studies in order to assess a previously reported association between a common genetic variant in the AKAP9 gene and breast cancer risk. Based on an analysis of 24,154 women with breast cancer and 33,376 without breast cancer, we observed that white European women with two copies of the variant […]
A role for XRCC2 gene polymorphisms in breast cancer risk and survival
Breast cancer can be caused by inherited changes in two major genes, BRCA1 and BRCA2, which can have devastating consequences, causing several cases of breast cancer in the same family. BRCA1 and BRCA2 code for proteins that are important for the repair of damaged DNA. In this study we have examined the effects of another […]
Variants in or near KITLG, BAK1, DMRT1, and TERT-CLPTM1L predispose to familial testicular germ cell tumour
Testicular cancer is the most common cancer affecting young men and, like many other adult-onset cancers, multiple-case families do occur. The genetic architecture of familial and sporadic cancers often differs, with rare, highly-penetrant mutations causing the former, and multiple common low-penetrance genetic variants underlying the latter. The study by Kratz and colleagues investigated familial testicular […]
Chromosome fragility in Fanconi anemia patients: diagnostic implications and clinical impact
Fanconi anemia (FA) is a rare syndrome characterized by bone marrow failure, malformations, and cancer predisposition. Chromosome fragility induced by DNA interstrand crosslink (ICL)-inducing drugs is the gold standard diagnostic test for FA. We present data from 198 chromosome fragility tests and propose a new chromosome fragility index that provides a cut-off diagnostic level to […]
Maternally transmitted late-onset nonsyndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAHis gene
A specific genetic defect in one Chinese family shows that hearing loss was inherited from the female parent. The defect results from a point mutation — the substitution of a single DNA “base” for another during replication — in the genes of a tiny cellular organ called the mitochondria, which generates a cell’s energy. When […]