Bleeding of unknown cause (BUC) is a diagnosis of exclusion, and it is common for these patients to have congenital platelet function disorders. Whole-exome sequencing may help reach a more accurate diagnosis in these cases.
Inborn errors of immunity comprise a group of several diseases, the most severe of which are immunodeficiency disorders. The latter are characterized by defective T-cell functioning leading to impaired immunity.
Researchers from Children’s Hospital of Philadelphia presented data from a study that linked variants in DNA methyltransferase 1-associated protein 1 (DMAP1) to a novel neurodevelopmental disorder.
Bone development is a continuous process, but in some cases, soft tissues can mineralize due to some anomalies in repairing processes, thus leading to heterotopic ossification (HO). Max Planck Institute for Molecular Genetics researchers aimed to find the genetic causes tied to this abnormal bone-formation disorder.
Congenital anomalies of the kidneys and urinary tract (CAKUT) remain the main cause of chronic kidney disease before the age of 25 years, and account for about 40% of childhood end-stage renal diseases. Studies in Xenopus species have shown ENPP6 knockdown to lead to impaired pronephros development, and mutations in the ENPP6 paralogue PIGN gene have been tied to CAKUT.
Investigators from the Thomas Jefferson University have presented a case report of a 27-year-old pregnant patient in whom cystic hygroma, extensive anasarca, bilateral pleural effusions, ascites, abnormally curved sacrum and hydrocephalus with parenchymal volume loss, among others were detected by prenatal imaging during pregnancy (onset was at about 21 weeks of gestation).
The CEP250 gene encodes centrosome-associated protein CEP250, involved in the formation of active centrosome components and cell cycle progression. CEP250 has been previously implicated in atypical Usher syndrome, which is characterized by early-onset hearing loss and mild retinitis pigmentosa.
Otosclerosis affects about 0.3% of population and it is among the most common cause of conductive hearing loss. Otosclerosis is highly familial, with positive family history reported in about 50% to 60% of cases. The disease is characterized by pathologic remodeling of the bone encasing the inner ear (otic capsule).
Amyotrophic lateral sclerosis (ALS) is the most frequent adult-onset motor neuron disease, and it is pathologically related with frontotemporal dementia (FTD). Genetic studies have identified C9ORF72 as a major genetic cause of ALS/FTD. Further genetic analyses and validation studies have identified some other genes associated with ALS risk, highlighting among them the NUP50 gene, which encodes nuclear pore complex protein Nup50.
