A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon‐Lefevre syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Clinical and Experimental Dental Research"
DOI: 10.1002/cre2.387
Abstract: In this study, we analyzed the whole exomes of CTSC gene in a family with history of PLS. read more here.
Keywords: ctsc gene; novel mutation; family; cathepsin ctsc ... See more keywords
A novel mutation of X‐linked recessive deafness gene POU3F4 in a boy with congenital deafness
Sign Up to like & getrecommendations! Published in 2022 at "Laryngoscope Investigative Otolaryngology"
DOI: 10.1002/lio2.850
Abstract: To report an interstitial deletion of Xq21.1 in chromosome X in a boy with congenital deafness. read more here.
Keywords: mutation linked; novel mutation; congenital deafness; linked recessive ... See more keywords
BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2095
Abstract: To report novel BEST1 variants in six Chinese families with bestrophinopathies of two different inheritance modes and analyze the intrafamilial phenotypic diversity. read more here.
Keywords: novel mutation; mutation causes; best1 novel; diversity ... See more keywords
Raine syndrome: Report of a novel mutation and review of the different antenatal imaging modalities used to diagnose this disease
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6138
Abstract: Raine syndrome is an autosomal recessive disorder characterized mainly by the presence of exophthalmos, choanal atresia or stenosis, osteosclerosis, and cerebral calcifications. There are around 50 cases described in the literature with a prevalence of… read more here.
Keywords: novel mutation; raine syndrome; mutation review; syndrome report ... See more keywords
Episodic psychosis, ataxia, motor neuropathy with pyramidal signs (PAMP syndrome) caused by a novel mutation in ADPRHL2 (AHR3)
Sign Up to like & getrecommendations! Published in 2021 at "Neurological Sciences"
DOI: 10.1007/s10072-021-05100-w
Abstract: The protein “ADP-Ribosylarginine Hydrolase-Like Protein 2” is encoded by ADPRHL2 and reverses ADP-ribosylation. Recently, mutations in ADPRHL2 were found to be associated with a very rare childhood onset severe neurodegeneration syndrome with episodic, stress-induced seizures,… read more here.
Keywords: mutation adprhl2; ataxia motor; novel mutation; episodic psychosis ... See more keywords
A novel mutation in ZP3 causes empty follicle syndrome and abnormal zona pellucida formation
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Assisted Reproduction and Genetics"
DOI: 10.1007/s10815-020-01995-0
Abstract: Purpose To identify disease-causing genes involved in female infertility. Methods Whole-exome sequencing and Sanger DNA sequencing were used to identify the mutations in disease-causing genes. We performed subcellular protein localization, western immunoblotting analysis, and co-immunoprecipitation… read more here.
Keywords: follicle syndrome; novel mutation; zp3; female infertility ... See more keywords
A Novel Mutation in G6PC3 Gene Associated Non-syndromic Severe Congenital Neutropenia
Sign Up to like & getrecommendations! Published in 2020 at "Indian Pediatrics"
DOI: 10.1007/s13312-020-1861-3
Abstract: A Novel Mutation in G6PC3 Gene Associated Non-syndromic Severe Congenital Neutropenia TORCH titres were normal. Chromosomal breakage studies and stool for fat globules were negative. Ultrasound was not suggestive of pancreatic fibrosis or renal anomaly.… read more here.
Keywords: g6pc3 gene; novel mutation; gene associated; congenital neutropenia ... See more keywords
CRB1 related retinal degeneration with novel mutation
Sign Up to like & getrecommendations! Published in 2020 at "American Journal of Ophthalmology Case Reports"
DOI: 10.1016/j.ajoc.2020.100699
Abstract: Purpose To describe novel and previously unreported genetic mutations in the CRB1 gene in a patient with retinal dystrophy. To increase the genotype-phenotype understanding of CRB1-related retinal degenerative diseases and describe patients’ response to therapy.… read more here.
Keywords: crb1 related; related retinal; novel mutation; retinal degeneration ... See more keywords
MHC class II deficiency: Report of a novel mutation and special review.
Sign Up to like & getrecommendations! Published in 2018 at "Allergologia et immunopathologia"
DOI: 10.1016/j.aller.2017.04.006
Abstract: The MHC II deficiency is a rare autosomal recessive primary immunodeficiency syndrome with increased susceptibility to respiratory and gastrointestinal infections, failure to thrive and early mortality. This syndrome is caused by mutations in transcription regulators… read more here.
Keywords: novel mutation; mhc; report; mhc deficiency ... See more keywords
Identification of a novel mutation in the MAFB gene in a pediatric patient with multicentric carpotarsal osteolysis syndrome using next-generation sequencing.
Sign Up to like & getrecommendations! Published in 2020 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2020.103902
Abstract: Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare form of skeletal dysplasia characterized by progressive bone resorption, in the carpal and tarsal bones. Patients may develop chronic kidney disease, which eventually advances to end-stage renal… read more here.
Keywords: carpotarsal osteolysis; osteolysis syndrome; novel mutation; disease ... See more keywords
A novel mutation in CYBB induced X-linked chronic granulomatous disease: A case report
Sign Up to like & getrecommendations! Published in 2020 at "Respiratory Medicine Case Reports"
DOI: 10.1016/j.rmcr.2020.101213
Abstract: Chronic granulomatous disease (CGD) is caused by gene mutations that affect the phagocyte NADPH oxidase. This results in recurrent infections by catalase-positive bacteria or fungi. Here, we report a case of X-linked CGD presenting a… read more here.
Keywords: granulomatous disease; chronic granulomatous; novel mutation; case ... See more keywords