Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene

2019 ◽  
Vol 257 (3) ◽  
pp. 629-638 ◽  
Author(s):  
Laura Kuehlewein ◽  
Ludger Schöls ◽  
Pablo Llavona ◽  
Alexander Grimm ◽  
Saskia Biskup ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Posterior Column ◽  
Phenotypic Spectrum

Autosomal recessive posterior column ataxia and retinitis pigmentosa

Neurology ◽  
1998 ◽  
Vol 51 (6) ◽  
pp. 1772-1773 ◽  
Author(s):  
J. Berciano ◽  
J. M. Polo
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Posterior Column

Massively parallel sequence analysis reveals the causative gene of an autosomal recessive neurodegenerative disorder, posterior column ataxia with retinitis pigmentosa

2011 ◽  
Vol 71 ◽  
pp. e292
Author(s):  
Hiroyuki Ishiura ◽  
Yoko Fukuda ◽  
Jun Mitsui ◽  
Yasuo Nakahara ◽  
Budrul Ahsan ◽  
...  
Keyword(s):  
Sequence Analysis ◽  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Neurodegenerative Disorder ◽  
Posterior Column ◽  
Massively Parallel ◽  
Causative Gene

An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa

Neurology ◽  
1997 ◽  
Vol 49 (6) ◽  
pp. 1717-1720 ◽  
Author(s):  
J. J. Higgins ◽  
D. H. Morton ◽  
N. Patronas ◽  
L. E. Nee
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Posterior Column

Autosomal recessive posterior column ataxia and retinitis pigmentosa

Neurology ◽  
1998 ◽  
Vol 51 (6) ◽  
pp. 1773-1773
Author(s):  
J. J. Higgins
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Posterior Column

Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in theFLVCR1gene

2014 ◽  
Vol 125 (1) ◽  
pp. 43-49 ◽  
Author(s):  
Aziz Shaibani ◽  
Lee-Jun Wong ◽  
Victor Wei Zhang ◽  
Richard Alan Lewis ◽  
Marwan Shinawi
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Posterior Column ◽  
Novel Mutations

scholarly journals ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

Neurogenetics ◽  
2021 ◽  
Author(s):  
Katja Kloth ◽  
Bernarda Lozic ◽  
Julia Tagoe ◽  
Mariëtte J. V. Hoffer ◽  
Amelie Van der Ven ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Neuronal Development ◽  
Autosomal Dominant ◽  
Tissue Expression ◽  
Autism Spectrum ◽  
Loss Of Function ◽  
Ankyrin G ◽  
Phenotypic Spectrum ◽  
And Function ◽  
Neurodevelopmental Phenotype

AbstractANK3 encodes multiple isoforms of ankyrin-G, resulting in variegated tissue expression and function, especially regarding its role in neuronal development. Based on the zygosity, location, and type, ANK3 variants result in different neurodevelopmental phenotypes. Autism spectrum disorder has been associated with heterozygous missense variants in ANK3, whereas a more severe neurodevelopmental phenotype is caused by isoform-dependent, autosomal-dominant, or autosomal-recessive loss-of-function variants. Here, we present four individuals affected by a variable neurodevelopmental phenotype harboring a heterozygous frameshift or nonsense variant affecting all ANK3 transcripts. Thus, we provide further evidence of an isoform-based phenotypic continuum underlying ANK3-associated pathologies and expand its phenotypic spectrum.

Clinical spectrum, genetic associations and management outcomes of Coats-like exudative retinal vasculopathy in autosomal recessive retinitis pigmentosa

2021 ◽  
pp. 1-8
Author(s):  
Moustafa Magliyah ◽  
Abdulaziz A. Alshamrani ◽  
Patrik Schatz ◽  
Ibrahim Taskintuna ◽  
Yahya Alzahrani ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Clinical Spectrum ◽  
Genetic Associations

scholarly journals Molecular Pathophysiology of Autosomal Recessive Polycystic Kidney Disease

2021 ◽  
Vol 22 (12) ◽  
pp. 6523
Author(s):  
Adrian Cordido ◽  
Marta Vizoso-Gonzalez ◽  
Miguel A. Garcia-Gonzalez
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Molecular Basis ◽  
Autosomal Recessive ◽  
Polycystic Kidney ◽  
Phenotypic Spectrum ◽  
New Gene ◽  
Stage Renal Disease ◽  
End Stage ◽  
Molecular Pathophysiology

Autosomal recessive polycystic kidney disease (ARPKD) is a rare disorder and one of the most severe forms of polycystic kidney disease, leading to end-stage renal disease (ESRD) in childhood. PKHD1 is the gene that is responsible for the vast majority of ARPKD. However, some cases have been related to a new gene that was recently identified (DZIP1L gene), as well as several ciliary genes that can mimic a ARPKD-like phenotypic spectrum. In addition, a number of molecular pathways involved in the ARPKD pathogenesis and progression were elucidated using cellular and animal models. However, the function of the ARPKD proteins and the molecular mechanism of the disease currently remain incompletely understood. Here, we review the clinics, treatment, genetics, and molecular basis of ARPKD, highlighting the most recent findings in the field.

scholarly journals Mutations in FLVCR1 Cause Posterior Column Ataxia and Retinitis Pigmentosa

2010 ◽  
Vol 87 (5) ◽  
pp. 643-654 ◽  
Author(s):  
Anjali M. Rajadhyaksha ◽  
Olivier Elemento ◽  
Erik G. Puffenberger ◽  
Kathryn C. Schierberl ◽  
Jenny Z. Xiang ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Posterior Column
Sign in / Sign up

Export Citation Format

Share Document