Literature DB >> 30459466

Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.

Venugopal S Vineeth1, Aneek Das Bhowmik1, Surya Balakrishnan1,2, Ashwin Dalal1,2, Shagun Aggarwal3,4.   

Abstract

We report on a sib pair of Indian origin born of a consanguineous parentage with a novel phenotype of distinct facial dysmorphism, cerebellar ataxia, dystonia, and exudative retinopathy due to homozygous PCDH12 nonsense variations. cDNA studies showed >90% reduction in transcript levels in both patients, indicating nonsense-mediated decay and loss of function as the probable causative molecular mechanism of the phenotype.

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Year:  2018        PMID： 30459466     DOI： 10.1038/s10038-018-0541-9

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


  10 in total

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2.  Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.

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Journal:  Neurology       Date:  2016-04-29       Impact factor: 9.910

Review 3.  Cadherins and neuropsychiatric disorders.

Authors:  Christoph Redies; Nicole Hertel; Christian A Hübner
Journal:  Brain Res       Date:  2012-07-02       Impact factor: 3.252

Review 4.  Cadherins in cerebellar development: translation of embryonic patterning into mature functional compartmentalization.

Authors:  Christoph Redies; Franziska Neudert; Juntang Lin
Journal:  Cerebellum       Date:  2011-09       Impact factor: 3.847

5.  A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy.

Authors:  Sato Suzuki-Muromoto; Keisuke Wakusawa; Takuya Miyabayashi; Ryo Sato; Yukimune Okubo; Wakaba Endo; Takehiko Inui; Noriko Togashi; Atsuko Kato; Hiroshi Oba; Mitsuko Nakashima; Hirotomo Saitsu; Naomichi Matsumoto; Kazuhiro Haginoya
Journal:  J Hum Genet       Date:  2018-03-19       Impact factor: 3.172

6.  Whole exome sequencing identifies a novel frameshift mutation in GPC3 gene in a patient with overgrowth syndrome.

Authors:  Aneek Das Bhowmik; Ashwin Dalal
Journal:  Gene       Date:  2015-08-29       Impact factor: 3.688

7.  Protocadherin 12 (VE-cadherin 2) is expressed in endothelial, trophoblast, and mesangial cells.

Authors:  Christine Rampon; Marie-Hélène Prandini; Stéphanie Bouillot; Hervé Pointu; Emmanuelle Tillet; Ronald Frank; Muriel Vernet; Philippe Huber
Journal:  Exp Cell Res       Date:  2005-01-01       Impact factor: 3.905

8.  A general framework for estimating the relative pathogenicity of human genetic variants.

Authors:  Martin Kircher; Daniela M Witten; Preti Jain; Brian J O'Roak; Gregory M Cooper; Jay Shendure
Journal:  Nat Genet       Date:  2014-02-02       Impact factor: 38.330

9.  Brain calcifications and PCDH12 variants.

Authors:  Gaël Nicolas; Monica Sanchez-Contreras; Eliana Marisa Ramos; Roberta R Lemos; Joana Ferreira; Denis Moura; Maria J Sobrido; Anne-Claire Richard; Alma Rosa Lopez; Andrea Legati; Jean-François Deleuze; Anne Boland; Olivier Quenez; Pierre Krystkowiak; Pascal Favrole; Daniel H Geschwind; Adi Aran; Reeval Segel; Ephrat Levy-Lahad; Dennis W Dickson; Giovanni Coppola; Rosa Rademakers; João R M de Oliveira
Journal:  Neurol Genet       Date:  2017-07-26

10.  Loss of Extended Synaptotagmins ESyt2 and ESyt3 does not affect mouse development or viability, but in vitro cell migration and survival under stress are affected.

Authors:  Chelsea Herdman; Michel G Tremblay; Prakash K Mishra; Tom Moss
Journal:  Cell Cycle       Date:  2014       Impact factor: 4.534
  10 in total
  1 in total

1.  Proximity-dependent Proteomics Reveals Extensive Interactions of Protocadherin-19 with Regulators of Rho GTPases and the Microtubule Cytoskeleton.

Authors:  Michelle R Emond; Sayantanee Biswas; Matthew L Morrow; James D Jontes
Journal:  Neuroscience       Date:  2020-10-01       Impact factor: 3.590
  1 in total

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