So far, abnormality of the GATA6 gene has been linked to only two clinical conditions: congenital heart malformation and recently described pancreatic agenesis. Previously reported cases of GATA6 pancreatic disease were sporadic and born with a total or near-total absence of the pancreas, most of them accompanied by severe neonatal diabetes mellitus and heart malformation. […]
Latest articles
Quantitative trait locus analysis for next-generation sequencing with the functional linear models
It is now well documented that next-generation sequencing (NGS) can generate several millions or even dozens of millions of genetic variation data. As a consequence, these genetic variation data are so densely distributed across the genome that the genetic variation can be modeled as a function of genomic location. But, standard multivariate statistical analysis often […]
Neurofibromatosis type 1: from genotype to phenotype
Although neurofibromatosis 1 (NF1) is a common genetic disorder, its expression is highly variable and unpredictable. Here, we review the genotype-phenotype correlations in NF1. Some NF1 patients with a given NF1 mutation may develop very severe disease while others with the same mutation have only mild symptoms, even in the same family. The clinical variability […]
A systematic review of associated structural and chromosomal defects in oral clefts: when is prenatal genetic analysis indicated?
Oral clefts are being diagnosed prenatally more frequently. When informing future parents on outcome and prognosis, the category of cleft as well as the presence of other structural congenital anomalies is crucial. Especially the identification of an underlying chromosomal defect will influence prenatal counselling and management of the pregnancy significantly. To provide a basis for […]
Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature
The chromosomal region 11p15 harbours several imprinted genes, i.e. genes which are expressed in a parent-of-origin manner. Opposite molecular disturbances in 11p15 are associated with two distinct disorders associated with disturbed growth, Silver-Russell and Beckwith-Wiedemann syndrome. Due to the complexity of the 11p15 region and the interactions between the different genes, the interpretation of copy […]
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Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer
SHOX, is a gene implicated in human growth. Defects in SHOX, or its regulatory regions have been observed in ~60% of Léri-Weill dyschondrosteosis (LWD) patients, a skeletal dysplasia, and in 2-5% of idiopathic short stature (ISS) patients. In this study, we identified the first recurrent deletion within the SHOX regulatory region in these disorders, 19/124 […]
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog
Holoprosencephaly is a common human brain malformation; there are many different known causes. Sonic Hedgehog was the first gene in which mutations were found to cause holoprosencephaly . Some individuals with Sonic Hedgehog mutations have very severe brain and facial malformations, and do not survive to be born. However, some people have only subtle facial […]
Translational Genomic Medicine: Common Metabolic Traits and Ancestral Components of Mexican Americans
Obesity, type 2 diabetes, hyperlipidaemia, hypertension and liver disease are common metabolic disorders in Mexican Americans, the largest minority population in the US. Mexican Americans are an admixed population with European, Amerindian and African ancestries. Ancestral analysis by genotyping a set of ancestry informative markers (AIMs) in this study identified associations between ancestral components and […]
The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome
The immune system relies on a finely tuned balance between immunity to pathogens and cancers, and tolerance to healthy self, our environment and commensals. This equilibrium is dramatically disrupted in the Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. This rare disorder is caused by mutations in the FOXP3 gene, a master transcriptional regulator for the development […]