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 […]
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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 […]
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 […]