An Ashkenazi Jewish founder mutation in CACNA1F causes retinal phenotype in both hemizygous males and heterozygous female carriers
Sign Up to like & getrecommendations! Published in 2019 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2019.1681008
Abstract: ABSTRACT Background: Mutations in CACNA1F have been mainly associated with X-linked incomplete congenital stationary night blindness (icCSNB). Variable phenotypic expression in females was reported in some families. We report here three non-related Ashkenazi Jewish families… read more here.
Keywords: phenotype; cacna1f; ashkenazi jewish; female carriers ... See more keywords
NDP-related retinopathies: clinical phenotype of female carriers
Sign Up to like & getrecommendations! Published in 2022 at "British Journal of Ophthalmology"
DOI: 10.1136/bjophthalmol-2021-320084
Abstract: Background/aims Norrin cysteine knot growth factor (NDP) located on the X chromosome, was previously reported to cause Norrie disease and familial exudative vitreoretinopathy (FEVR), which are blindness-causing ocular disorders, in males. In this study, we… read more here.
Keywords: ndp mutations; female carriers; related retinopathies; ndp related ... See more keywords
Novel SLC9A6 Variation in Female Carriers With Intellectual Disability and Atypical Parkinsonism
Sign Up to like & getrecommendations! Published in 2022 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000651
Abstract: Background and Objectives Variations in SLC9A6 cause the X-linked neurologic disorder Christianson syndrome in males. Meanwhile, female carriers with SLC9A6 variations may remain asymptomatic or develop intellectual disability, behavioral problems, and psychiatric illnesses. Only a… read more here.
Keywords: variation; female carriers; intellectual disability; atypical parkinsonism ... See more keywords
Clinical Features of Female Carriers and Prodromal Male Patients With Spinal and Bulbar Muscular Atrophy
Sign Up to like & getrecommendations! Published in 2022 at "Neurology"
DOI: 10.1212/wnl.0000000000201342
Abstract: Background and Objectives To assess the clinical and electrophysiologic features of female carriers and early-stage male patients with spinal and bulbar muscular atrophy (SBMA) to elucidate the early pathophysiologic changes of the disease. Methods Female… read more here.
Keywords: features female; male patients; female carriers; early stage ... See more keywords
X Chromosome Inactivation Pattern and Pregnancy Outcome of Female Carriers of Pathogenic Heterozygous X-Linked Deletions
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2021.782629
Abstract: Prenatal risk assessment of carriers of heterozygous X-linked deletion is a big challenge due to the phenotypic modification induced by X chromosome inactivation (XCI). Herein, we described four Chinese pedigrees with maternal-inherited X-deletions above 1… read more here.
Keywords: carriers pathogenic; female carriers; chromosome inactivation; linked deletions ... See more keywords
Cognitive status correlates of subclinical action tremor in female carriers of FMR1 premutation
Sign Up to like & getrecommendations! Published in 2024 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2024.1401286
Abstract: Background There is evidence for a significant excess of kinetic upper limb tremor in non-FXTAS female FMR1 premutation carriers. The present study explores the possibility that this tremor is associated with various other features reminiscent… read more here.
Keywords: tremor; premutation; action tremor; fmr1 premutation ... See more keywords
Identification of Cardiomyopathy-Associated Circulating miRNA Biomarkers in Muscular Dystrophy Female Carriers Using a Complementary Cardiac Imaging and Plasma Profiling Approach
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Physiology"
DOI: 10.3389/fphys.2018.01770
Abstract: Background: Different from males with Duchenne/Becker muscular dystrophy (DMD/BMD) in whom overt myopathy is the rule, muscular dystrophy (MD) female carriers are mostly free of skeletal muscle symptoms. However, similar to MD males, these females… read more here.
Keywords: female; mir; female carriers; muscular dystrophy ... See more keywords
X-Linked Emery–Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers
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DOI: 10.3390/genes10110919
Abstract: X-linked Emery–Dreifuss muscular dystrophy (EDMD1) affects approximately 1:100,000 male births. Female carriers are usually asymptomatic but, in some cases, they may present clinical symptoms after age 50 at cardiac level, especially in the form of… read more here.
Keywords: linked emery; muscular dystrophy; female carriers; emery dreifuss ... See more keywords
A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13071268
Abstract: Choroideremia is an X-linked recessive condition presenting in males, with progressive degeneration of retinal and choroidal tissues leading to progressive visual loss. Its pathological mechanism is due to alterations in the CHM gene that encodes… read more here.
Keywords: female carriers; negative effect; rab; rep1 ... See more keywords