Fetus triploidy is a common cause of early miscarriages. In some cases, genetic predisposition has been suspected, but the genes involved are unknown. Here we explored the genetic cause of recurrent pregnancy loss associated with fetus triploidy in an Iranian family. We found a mutation in the cyclin B3 gene that is normally required to […]
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Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases/renal ciliopathies (Contributed by Dr. Jens König)
Cilia are antenna-like protrusions found on almost every human cell type that are involved in the transmission of various sensations including the sense of smell. Thus, genetic defects disrupting the functional or structural integrity of cilia may result in olfactory dysfunction. Renal ciliopathies are among the most abundant representatives of these genetic disorders. Here, we […]
Sporadic vestibular schwannoma: a molecular testing summary (Contributed by Katie Sadler)
Our study reviews the prevalence of undiagnosed tumour predisposition disorders, schwannomatosis and NF2, in apparent cases of sporadic vestibular schwannoma (VS). We found that undiagnosed predisposition to these tumours may account for a significant proportion of apparently sporadic VS cases, especially in those presenting at a lower age. Somatic mutations in NF2 were common throughout […]
TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents (Contributed by Dr. med. Julien H. Park)
In a consanguineous family, we identified a truncating pathogenic variant in TMEM16A. As a result, the patients develop a severe neonatal disorder mimicking necrotizing enterocolitis. Electrophysiological studies demonstrate absence of TMEM16A-mediated chloride currents and severe impairment of CFTR, the ion channel mutated in Cystic Fibrosis. Despite this, the patients had no respiratory symptoms but instead […]
Description of a multidisciplinary model of care in a French cohort of adult patients with tuberous sclerosis complex (Contributed by Dr Pierre Pfirmann)
Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Due to the various manifestations of TSC and their potential complications, a multidisciplinary care approach is recommended. This study provides a precise description of a French cohort of 90 patients suffering from STB in adulthood. Their quality of life, i.e. physical health and mental […]
Ethnic-specific BRCA1/2 variation within Asia population: evidence from over 78 000 cancer and 40 000 non-cancer cases of Indian, Chinese, Korean and Japanese populations (Contributed by Dr. San Ming Wang)
BRCA mutation is genetic predisposition for breast and ovarian cancer. BRCA mutation is well determined as ethnic-specific by studies in Ashkenazi Jewish, Polish and Icelandic populations. However, sufficient evidence is lack to determine if ethnic-specific BRCA mutation is also present in the largest and the most diversified Asia population. We performed a comprehensive data mining to […]
Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy (Contributed by Dr. Andrea Riccio)
Fetus triploidy is a common cause of early miscarriages. In some cases, genetic predisposition has been suspected, but the genes involved are unknown. Here we explored the genetic cause of recurrent pregnancy loss associated with fetus triploidy in an Iranian family. We found a mutation in the cyclin B3 gene that is normally required to […]
De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes (Contributed by Professor Judith Melki)
Arthrogryposis multiplex congenita (AMC) is characterized by congenital joint contractures due to reduced fetal movements and includes a large spectrum of diseases. We show for the first time that de novo SCN1A variants are responsible for AMC indicating a critical role of SCN1A in motor development. SCN1A encodes a component of sodium channels which underlie […]
Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases/renal ciliopathies (Contributed by Dr. Jens König)
Cilia are antenna-like protrusions found on almost every human cell type that are involved in the transmission of various sensations including the sense of smell. Thus, genetic defects disrupting the functional or structural integrity of cilia may result in olfactory dysfunction. Renal ciliopathies are among the most abundant representatives of these genetic disorders. Here, we […]
Loss-of-function variants in POT1 predispose to uveal melanoma (Contributed by Vaishnavi Nathan)
‘Protection of telomeres 1′ (POT1) binds to chromosome ends (known as telomeres) to shield them from excessive degradation or lengthening. Mutations in the POT1 gene create a protein that cannot bind to the telomere. A person with a POT1 mutation is more likely to develop certain types of cancer. Mutations were found in POT1 in […]