Prostate specific antigen (PSA) is a useful marker for screening of prostate cancer (PCa), one of the leading causes of death in the world. Here, we showed that two genetic variants in SLC45A3 and KLK3 genes are significantly associated with PSA levels in the Japanese population. The association of SLC45A3 was not known in Japanese. […]
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Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6
The most common spinocerebellar ataxias (SCA), SCA1, SCA2, SCA3 and SCA6, are caused by a (CAG)n repeat expansion with a correlation between the number of repeats of the coding (CAG)n expansions and age at onset. We combined data from two major European cohorts of SCA1-3 and SCA6 carriers: affected individuals from the EUROSCA registry and […]
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly
Mutations in GLI2 have been associated with holoprosencephaly (HPE), a neuroanatomic anomaly resulting from incomplete cleavage of the developing forebrain, and an HPE-like phenotype involving pituitary anomalies and polydactyly. We collected the largest sample to date of individuals with variants affecting GLI2 and characterized their phenotype. This included previously published cases as well as new […]
A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma
Retinitis pigmentosa is a group of genetically inherited eye diseases which represents the most frequent cause of inherited blindness worldwide. Persons with retinitis pigmentosa experience night blindness, which is followed by tunnel vision due to the progressive degeneration of the light sensing cells called rods and cones. Approximately 60 different genes can be defective in […]
A familial disorder of altered DNA-methylation
Genomic imprinting is an epigenetic process leading to parent-of-origin specific DNA methylation and gene expression. There are several recognizable phenotypes caused by DNA-methylation changes at disease specific imprinted loci. In the recent years it became obvious that some patients exhibit changes of DNA-methylation at multiple imprinted loci. We report a family with three offspring who […]
A meta-analysis identifies adolescent idiopathic scoliosis association with LBX1 locus in multiple ethnic groups
Adolescent idiopathic scoliosis (AIS) is the most common spinal deformity, affecting > 30 million children worldwide. Children usually develop AIS around the time of the adolescent growth spurt, and girls are at greater risk of severe deformity requiring treatment. Until recently the causes of AIS have remained unknown. In 2011 a genome-wide association study (GWAS) […]
ADAP2 in heart development: a candidate gene for the occurrence of Cardiovascular Malformations in NF1 Microdeletion Syndrome
The NF1 microdeletion syndrome is caused by the deletion of a chromosome 17 region encompassing the NF1 gene and flanking genes. We previously found that the patients with the syndrome display a significantly higher incidence of Cardiovascular Malformations (CVMs) than that observed in the NF1 patients with intragenic mutations, suggesting that genes present in the […]
Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia
Sedaghatian-type spondylometaphyseal dysplasia is a rare syndrome characterized by abnormal bone development with shortened limbs and flattened spine. Affected children also have heart rhythm defects and brain abnormalities such that they pass away shortly after birth. Eighteen infants affected with this rare disease have been reported worldwide. We studied two families and identified loss-of-function mutations […]
RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients
Retinoblastoma is a cancer of the retina that occurs in young children, in the majority of cases initiated by mutations in the RB1 tumour suppressor gene. About 40% of retinoblastoma patients have a germline RB1 mutation which gives them a hereditary predisposition to develop retinoblastoma. Knowledge of the presence of an RB1 mutation can help […]
Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair
The combination of keratoderma (thickened palms and soles) with woolly hair should always alert the clinician to the possibility of Naxos or Carvajal syndromes. These two autosomal recessive conditions are caused by mutations in desmosomal proteins, which are critical for cellular adhesion in the skin. Since desmosomes are abundant in the cardiac muscle, these syndromes […]