Tissue‐specific genotype–phenotype correlations among USH2A‐related disorders in the RUSH2A study
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24365
Abstract: We assessed genotype–phenotype correlations among the visual, auditory, and olfactory phenotypes of 127 participants with Usher syndrome (USH2) (n =80) or nonsyndromic autosomal recessive retinitis pigmentosa (ARRP) (n = 47) due to USH2A variants, using clinical data and… read more here.
Keywords: ush2a related; phenotype correlations; genotype; genotype phenotype ... See more keywords
Genotype‐phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14
Sign Up to like & getrecommendations! Published in 2018 at "Movement Disorders"
DOI: 10.1002/mds.27334
Abstract: Background: Spinocerebellar ataxia type 14 is a rare form of autosomal dominant cerebellar ataxia caused by mutations in protein kinase Cγ gene. Clinically, it presents with a slowly progressive, mainly pure cerebellar ataxia. read more here.
Keywords: ataxia type; spinocerebellar ataxia; genotype phenotype; phenotype correlations ... See more keywords
A spotter's guide to SNPtic exons: The common splice variants underlying some SNP-phenotype correlations.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.1840
Abstract: BACKGROUND Cryptic exons are typically characterised as deleterious splicing aberrations caused by deep intronic mutations. However, low-level splicing of cryptic exons is sometimes observed in the absence of any pathogenic mutation. Five recent reports have… read more here.
Keywords: snptic exons; splice; phenotype correlations; snp ... See more keywords
Genotype and Phenotype Correlations for TBL1XR1 in Neurodevelopmental Disorders
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Molecular Neuroscience"
DOI: 10.1007/s12031-020-01615-7
Abstract: TBL1XR1 is a member of the WD40 repeat-containing gene family. Mutations of TBL1XR1 have been reported in neurodevelopmental disorders (NDDs). Although the phenotypes of some patients have been described in single studies, few studies have… read more here.
Keywords: genotype phenotype; phenotype correlations; correlations tbl1xr1; tbl1xr1 neurodevelopmental ... See more keywords
GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations.
Sign Up to like & getrecommendations! Published in 2020 at "Bone"
DOI: 10.1016/j.bone.2020.115803
Abstract: INTRODUCTION Brachydactyly is a bone development abnormality presenting with variable phenotypes and different transmission patterns. Mutations in GDF5 (Growth and Differentiation Factor 5, MIM *601146) account for a significant amount of cases. Here, we report… read more here.
Keywords: phenotype; genotype phenotype; phenotype correlations; analysis ... See more keywords
Mutation spectrum in the ABCC6 gene and genotype–phenotype correlations in a French cohort with pseudoxanthoma elasticum
Sign Up to like & getrecommendations! Published in 2017 at "Genetics in Medicine"
DOI: 10.1038/gim.2016.213
Abstract: Purpose:Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder caused by variants in the ABCC6 gene. Ectopic mineralization of connective tissues leads to skin, eye, and cardiovascular manifestations with considerable phenotypic variability of unknown cause. We… read more here.
Keywords: phenotype; genotype phenotype; phenotype correlations; pseudoxanthoma elasticum ... See more keywords
Genotype–phenotype correlations in recessive titinopathies
Sign Up to like & getrecommendations! Published in 2020 at "Genetics in Medicine"
DOI: 10.1038/s41436-020-0914-2
Abstract: High throughput sequencing analysis has facilitated the rapid analysis of the entire titin (TTN) coding sequence. This has resulted in the identification of a growing number of recessive titinopathy patients. The aim of this study… read more here.
Keywords: recessive titinopathies; genotype phenotype; phenotype correlations; ttn ... See more keywords
De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations.
Sign Up to like & getrecommendations! Published in 2022 at "Human molecular genetics"
DOI: 10.1093/hmg/ddac182
Abstract: Pathogenic variants in ATL1 are a known cause of autosomal-dominantly inherited hereditary spastic paraplegia (HSP-ATL1, SPG3A) with a predominantly 'pure' HSP phenotype. Although a relatively large number of patients have been reported, no genotype-phenotype correlations… read more here.
Keywords: phenotype correlations; phenotype; novo variants; hsp atl1 ... See more keywords
Genotype/phenotype correlations of childhood‐onset congenital sideroblastic anaemia in a European cohort
Sign Up to like & getrecommendations! Published in 2019 at "British Journal of Haematology"
DOI: 10.1111/bjh.16100
Abstract: Congenital sideroblastic anaemia (CSA) is a rare disease caused by germline mutations of genes involved in haem and iron‐sulphur cluster formation, and mitochondrial protein biosynthesis. We performed a retrospective multicentre European study of a cohort… read more here.
Keywords: genotype phenotype; sideroblastic anaemia; phenotype correlations; congenital sideroblastic ... See more keywords
Patient complexity and genotype-phenotype correlations in biliary atresia: a cross-sectional analysis
Sign Up to like & getrecommendations! Published in 2017 at "BMC Medical Genomics"
DOI: 10.1186/s12920-017-0259-0
Abstract: BackgroundBiliary Atresia (BA) is rare and genetically complex, and the pathogenesis is elusive. The disease course is variable and can represent heterogeneity, which hinders effective disease management. Deciphering the BA phenotypic variance is a priority… read more here.
Keywords: cross sectional; genotype phenotype; phenotype correlations; analysis ... See more keywords
Genotype-phenotype correlations in FSHD
Sign Up to like & getrecommendations! Published in 2019 at "BMC Medical Genomics"
DOI: 10.1186/s12920-019-0488-5
Abstract: BackgroundFacial-scapular-humeral myodystrophy Landouzy-Dejerine (FSHD) is an autosomal dominant disease, the basis of its pathogenesis is ectopic expression of the transcription factor DUX4 in skeletal muscle. There are two types of the disease: FSHD1 (MIM:158900) and… read more here.
Keywords: genotype phenotype; phenotype correlations; correlations fshd; family ... See more keywords