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 […]
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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 […]
Epigenetic state and expression of imprinted genes in umbilical cord correlates with growth parameters in human pregnancy
Human studies in genomic imprinting, a process causing genes to be expressed according to parental origin, can be limited by tissue availability, tissue-specific expression and cellular heterogeneity. This work shows that umbilical cord overcomes many of these limitations, having robust imprinted gene expression and appropriate methylation patterns. Expression of the PHLDA2 and PEG10 genes in […]
Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events
Chromosome 22q11.2 duplication syndrome is associated with developmental delay and various birth defects and results when an individual has an extra piece (three copies total) of chromosomal material from 22q11.2. We describe five individuals who have an extra copy of this segment from 22q11.2 on both chromosome 22s (four copies total). The features seen in […]
The speech gene FOXP2 is not imprinted
FOXP2 is a gene that plays a critical role in setting up the brain circuitry enabling speech-language. Preliminary data suggested that FOXP2 could be regulated according to its parental origin (genomic imprinting), with only the paternal copy expressed. Imprinting is thought to involve antagonism between the parental genomes and has been put forward as a […]
Prediction of breast cancer risk by genetic risk factors, overall and by hormone receptor status
Knowing a woman’s risk to develop breast cancer at a given age can be an important tool for optimized targeting of preventive measures such as screening or chemo prevention. In a large population study, we examined if 32 genetic markers that were previously identified through systematic genetic searches can improve the prediction of breast cancer […]
Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia
We describe for the first time a patient who has only one copy of the EVI1- and MDS1-gene, because of an inborn chromosomal defect. These two genes are known to be important for the stem cell functioning of the bone marrow, and thereby essential for the ongoing formation of blood cells. The decrease in the […]
Complex I deficiency: clinical features, biochemistry and molecular genetics
The challenges of genetically diagnosing complex I deficiency, the most common cause of childhood-onset mitochondrial disease, are not only due to the very broad spectrum of clinical presentations, but also because of the large number of potential disease-causing genes. This review discusses the structure and function of complex I in light of recent X-ray crystallographic […]
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency
Mitochondrial diseases affect both children and adults and are clinically and genetically diverse, on account of the dual genetic control of mitochondrial function. Isolated complex II deficiency is a rare form of mitochondrial disease, due to autosomal recessive mutations in either structural components of this enzyme (the SDHA, SDHB, SDHC and SDHD genes) or two […]
Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma
Punctate palmoplantar keratoderma (PPPK) is a rare autosomal dominant skin disorder characterized by numerous hyperkeratotic papules irregularly distributed on the palms and soles. To date, no causal gene for this disease has been identified. The authors identified a novel heterozygous mutation (c.4505C->T [p.Pro1502Leu]) in COL14A1 gene using exome sequencing, which is a missense substitution at […]