Identification of a novel pathogenic MLH1 mutation and recommended genetic screening strategy: An investigation of three Chinese Lynch syndrome pedigrees
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1295
Abstract: Abstract Background Lynch syndrome (LS) is an autosomal‐dominant disorder that increases the risk of many cancers. The genetic basis of LS is germline mutations in DNA mismatch repair genes. Methods We performed next‐generation sequencing on… read more here.
Keywords: mlh1; genetic screening; identification novel; novel pathogenic ... See more keywords
A novel pathogenic splice site variation in STK11 gene results in Peutz–Jeghers syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1729
Abstract: Peutz–Jeghers syndrome (PJS) is a rare autosomal dominantly inherited disease resulting in multiple gastrointestinal hamartomatous polyps, mucocutaneous pigmentation, and an increased risk of various types of cancer, and is caused by variations in the serine/threonine… read more here.
Keywords: jeghers syndrome; novel pathogenic; splice site; site variation ... See more keywords
A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.902
Abstract: Jalili syndrome (JS) is a rare cone‐rod dystrophy (CRD) associated with amelogenesis imperfecta (AI). The first clinical presentation of JS patients was published in 1988 by Jalili and Smith. Pathogenic mutations in the Cyclin and… read more here.
Keywords: pathogenic missense; jalili syndrome; novel pathogenic; variant cnnm4 ... See more keywords
Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.
Sign Up to like & getrecommendations! Published in 2017 at "International journal of pediatric otorhinolaryngology"
DOI: 10.1016/j.ijporl.2017.08.006
Abstract: OBJECTIVES The genetics of sensorineural hearing loss is characterized by a high degree of heterogeneity. Despite this heterogeneity, DNA variants found within SLC26A4 have been reported to be the second most common contributor after those… read more here.
Keywords: hearing loss; related hearing; loss; novel pathogenic ... See more keywords
Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Neuroscience"
DOI: 10.1016/j.jocn.2019.12.007
Abstract: Congenital myasthenic syndrome (CMS) is a heterogeneous group of inherited disorder which does not associate with anti-acetylcholine receptor (AChR) antibody. The presence of AChR autoantibody is pathogenic and highly sensitive and specific for autoimmune myasthenia… read more here.
Keywords: presence; congenital myasthenic; myasthenic syndrome; novel pathogenic ... See more keywords
Novel pathogenic ALG2 mutation causing congenital myasthenic syndrome: A case report
Sign Up to like & getrecommendations! Published in 2022 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2021.11.012
Abstract: ALG2 mutations are extremely rare causes of congenital myasthenic syndromes (CMS). The clinical phenotype and treatment response is therefore not well described. We present the case of a baby who immediately after birth presented with… read more here.
Keywords: alg2 mutation; congenital myasthenic; pathogenic alg2; case ... See more keywords
A Novel Pathogenic β-Thalassemia Mutation Identified at Codon 8 (HBB: c.27delG) in a Bangladeshi Family Acquired De Novo
Sign Up to like & getrecommendations! Published in 2019 at "Hemoglobin"
DOI: 10.1080/03630269.2019.1638797
Abstract: Abstract In Bangladesh, the practice of β-thalassemia (β-thal) carrier screening and prenatal diagnosis (PND) by β-globin gene sequencing has been initiated to prevent the birth of affected children. The study aimed to describe a novel… read more here.
Keywords: globin gene; family; hbb 27delg; novel pathogenic ... See more keywords
Identification of three novel pathogenic ITGA2B and one novel pathogenic ITGB3 mutations in patients with hereditary Glanzmann’s thrombasthenia living in Eastern Turkey
Sign Up to like & getrecommendations! Published in 2020 at "Platelets"
DOI: 10.1080/09537104.2020.1732331
Abstract: Abstract Glanzmann’s thrombasthenia (GT) is an autosomal recessive disorder in which the underlying problem is the lack or dysfunction of the GpIIb/IIIa receptor on the platelet surface. The present study determines the genetic mutation typology… read more here.
Keywords: hematology; glanzmann thrombasthenia; novel pathogenic; clinical findings ... See more keywords
Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000165
Abstract: Costello syndrome (CS) is a rare congenital disorder from the group of RASopathies, characterized by a distinctive facial appearance, failure to thrive, cardiac and skin anomalies, intellectual disability, and a predisposition to neoplasia. CS is… read more here.
Keywords: patients costello; pathogenic variant; polish patients; novel pathogenic ... See more keywords
A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next‐generation sequencing and review of the literature
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the Peripheral Nervous System"
DOI: 10.1111/jns.12310
Abstract: Neurofilaments are neuron‐specific intermediate filaments essential for the radial growth of axons during development and the maintenance of axonal diameter. Pathogenic variants of Neurofilament Light (NEFL) are associated with CMT1F, CMT2E, and CMTDIG and have… read more here.
Keywords: nefl responsible; deafness associated; pathogenic variant; variant nefl ... See more keywords
Carney complex: a curious case of a rare cancer syndrome caused by a novel pathogenic mutation in the PRKAR1A gene
Sign Up to like & getrecommendations! Published in 2021 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-241886
Abstract: A 39-year-old woman was referred to the cancer genetics outpatient clinic for a clinical diagnosis of Carney complex (CNC) in her deceased brother. The patient had some characteristic clinical features such as periorbital lentigines and… read more here.
Keywords: pathogenic mutation; case; carney complex; novel pathogenic ... See more keywords