Phenotypic Variability with Two Novel Variants in SPG15: Catching the Lynx by its Ears
Sign Up to like & getrecommendations! Published in 2022 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13474
Abstract: Hereditary spastic paraplegia (HSP) syndrome is a group of inherited, progressive, neurodegenerative disorders with clinical, radiological, and genetic heterogeneity. The core clinical feature is lower limb spasticity with variable dorsal column involvement. However, other neurological… read more here.
Keywords: variability two; novel variants; phenotypic variability; two novel ... See more keywords
Identification of six novel variants in Waardenburg syndrome type II by next‐generation sequencing
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1128
Abstract: Waardenburg syndrome (WS) is a dominantly inherited, genetically heterogeneous auditory‐pigmentary syndrome characterized by nonprogressive sensorineural hearing loss and iris discoloration. This study aimed to investigate the underlying molecular pathology in Chinese WS families. read more here.
Keywords: identification six; syndrome type; waardenburg syndrome; six novel ... See more keywords
Identification of nine novel variants across PAX3 , SOX10 , EDNRB , and MITF genes in Waardenburg syndrome with next‐generation sequencing
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2082
Abstract: Waardenburg syndrome (WS) is a hereditary, genetically heterogeneous disorder characterized by variable presentations of sensorineural hearing impairment and pigmentation anomalies. This study aimed to investigate the clinical features of WS in detail and determine the… read more here.
Keywords: nine novel; novel variants; identification nine; variants across ... See more keywords
Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domains.
Sign Up to like & getrecommendations! Published in 2020 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2020.103940
Abstract: Pathogenic variants within PAX6 are most often associated with aniridia, but have been linked with other phenotypes such as nystagmus, cataracts and foveal hypoplasia. Data are presented from a large cohort of 434 probands referred… read more here.
Keywords: homeobox domains; pax6; cohort; novel variants ... See more keywords
NGLY1 deficiency: Novel variants and literature review.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2021.104146
Abstract: NGLY1 deficiency is a recently described autosomal recessive disorder, involved in deglycosylation of proteins, and for that reason grouped as the congenital disorders of deglycosylation together with the lysosomal storage disorders. The typical phenotype is… read more here.
Keywords: ngly1 deficiency; deficiency novel; variants literature; novel variants ... See more keywords
Novel variants in familial exudative vitreoretinopathy patients with KIF11 mutations and the Genotype-Phenotype correlation.
Sign Up to like & getrecommendations! Published in 2020 at "Experimental eye research"
DOI: 10.1016/j.exer.2020.108165
Abstract: Familial exudative vitreoretinopathy (FEVR) is an inherited disease characterized by abnormal development of retinal vasculature. KIF11 mutations were identified to be associated with FEVR in recent years. The purpose of this study was to investigate… read more here.
Keywords: kif11 mutations; exudative vitreoretinopathy; patients kif11; familial exudative ... See more keywords
Novel variants associated with Stargardt disease in Chinese patients.
Sign Up to like & getrecommendations! Published in 2020 at "Gene"
DOI: 10.1016/j.gene.2020.144890
Abstract: PURPOSE Stargardt disease (STGD) is the most frequent cause of hereditary macular dystrophy in childhood. Variants in the ABCA4, ELOVL4, PROM1, BEST1, and PRPH2 genes have been detected in patients with autosomal recessive or dominant… read more here.
Keywords: stgd; variants abca4; disease; chinese patients ... See more keywords
Curating the gnomAD database: Report of novel variants in the thyrogobulin gene using in silico bioinformatics algorithms
Sign Up to like & getrecommendations! Published in 2021 at "Molecular and Cellular Endocrinology"
DOI: 10.1016/j.mce.2021.111359
Abstract: Thyroglobulin (TG) is a large glycosylated protein of 2,767 amino acids, secreted by the thyrocytes into the follicular lumen. It plays an essential role in the process of thyroid hormone synthesis. TG gene variants lead… read more here.
Keywords: gnomad database; report; novel variants; gene ... See more keywords
Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families
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DOI: 10.1038/s41439-018-0016-8
Abstract: We report two female patients with focal segmental glomerulosclerosis and chronic kidney disease. The first patient was found to have a heterozygous, de novo, pathogenic variant in COL4A5 (c.141+1G>A, IVS2+1G>A), which is associated with Alport… read more here.
Keywords: focal segmental; rare causes; col4a5 rare; variants col4a4 ... See more keywords
Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants
Sign Up to like & getrecommendations! Published in 2019 at "Human Genome Variation"
DOI: 10.1038/s41439-019-0065-7
Abstract: Variants in the retinitis pigmentosa GTPase regulator (RPGR) gene are a major cause of X-linked inherited retinal disorder (IRD). We herein describe the clinical and genetic features of 14 patients from 13 Japanese families harboring… read more here.
Keywords: patients japanese; retinal disorder; clinical genetic; novel variants ... See more keywords
Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Pediatric Genetics"
DOI: 10.1055/s-0041-1736457
Abstract: Neurofibromatosis type 1 (NF1) is one of the most common inherited disorders. It is caused by mutations in the neurofibromin-1 gene (NF1) and affects the formation and growth of nerve tissues. More than 3,600 pathogenic… read more here.
Keywords: patients southeast; variants clinical; characteristics patients; southeast asia ... See more keywords