scholarly journals PLP1 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Plp1 Gene

scholarly journals Restoration of the Normal Splicing Pattern of the PLP1 Gene by Means of an Antisense Oligonucleotide Directed against an Exonic Mutation

PLoS ONE ◽  
2013 ◽  
Vol 8 (9) ◽  
pp. e73633 ◽  
Author(s):  
Stefano Regis ◽  
Fabio Corsolini ◽  
Serena Grossi ◽  
Barbara Tappino ◽  
David N. Cooper ◽  
...  
Keyword(s):  
Antisense Oligonucleotide ◽  
Splicing Pattern ◽  
Plp1 Gene

scholarly journals Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease

2015 ◽  
Vol 16 (1) ◽  
Author(s):  
Julien Masliah-Planchon ◽  
Céline Dupont ◽  
George Vartzelis ◽  
Aurélien Trimouille ◽  
Eléonore Eymard-Pierre ◽  
...  
Keyword(s):  
Extra Copy ◽  
Plp1 Gene ◽  
Pelizaeus Merzbacher Disease

Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplications

2008 ◽  
Vol 73 (3) ◽  
pp. 279-287 ◽  
Author(s):  
S Regis ◽  
R Biancheri ◽  
E Bertini ◽  
A Burlina ◽  
S Lualdi ◽  
...  
Keyword(s):  
Gene Duplications ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Plp1 Gene ◽  
Pelizaeus Merzbacher Disease

scholarly journals Plp1 gene duplication inhibits airway responsiveness and induces lung inflammation

2015 ◽  
Vol 30 ◽  
pp. 22-31
Author(s):  
Elena Rodriguez ◽  
Lauren Sakowski ◽  
Grace M. Hobson ◽  
Milena Hirata Armani ◽  
Portia A. Kreiger ◽  
...  
Keyword(s):  
Gene Duplication ◽  
Lung Inflammation ◽  
Airway Responsiveness ◽  
Plp1 Gene

scholarly journals Pelizaeus-Merzbacher Disease with Novel Variant: Case Report

2021 ◽  
Author(s):  
Isadora Souza Rocha ◽  
Paola Nabhan Leonel dos Santos ◽  
João Guilherme Bochnia Küster ◽  
Maria Angélica Vieira Lizama ◽  
Vinícius Riegel Giugno ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Case Report ◽  
Upper Limb ◽  
Brain Mri ◽  
Behavioral Disorder ◽  
Abnormal Development ◽  
Speech Impairment ◽  
Novel Variant ◽  
Plp1 Gene ◽  
Pelizaeus Merzbacher Disease

Context: Pelizaeus-Merzbacher Disease (PMD) is a rare X-linked recessive hypomyelinating leukodystrophy caused by mutations in the proteolipid protein 1 (PLP1) gene, associated with myelin sheath development and stability. The result is a broad spectrum of clinical phenotypes. Diagnosis is confirmed by genetic testing. Clinical features include hypotonia followed by progressive spasticity, nystagmus, ataxia and cognitive impairment. Males are more affected. Females are asymptomatic or present milder symptoms. Most cases arise from duplications, point and null mutations. Null mutations are associated with milder phenotypes. Brain Magnetic Resonance Imaging (MRI) may reveal hypomyelination. There is no disease modifying treatment for PMD. We aim to present the case of a woman with a novel variant of the PLP1 gene. Case report: A 38-year-old female presented with 23 years of progression of upper limb tremor, speech impairment, lower limb rigidity and urinary incontinence. She reported abnormal development of reading and writing skills. She had a brother with cognitive impairment, delayed motor development, gait disorder and generalized tonic-clonic seizures; and a sister with upper limb tremor, dysarthria and behavioral disorder. Hypomyelination was detected on brain MRI. Complete exome sequencing detected a novel likely pathogenic variant of PLP1 gene: ChrX(GRCh37):NC_000023.10:g.103041651del:NM _000533.3:c449del, p.Asp150AlafsTer10, heterozygous. Conclusions: The patient’s case resembles a milder form of PMD. This is supported by literature linking deletions and female sex to milder phenotypes. In 20 to 40% of cases with suggestive clinical findings, no PLP1 mutation is found. New studies are needed to identify other variants associated with PMD.

scholarly journals Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis

2017 ◽  
Vol 2017 ◽  
pp. 1-4
Author(s):  
Kimia Najafi ◽  
Roxana Kariminejad ◽  
Kaveh Hosseini ◽  
Azadeh Moshtagh ◽  
Gole Maryam Abbassi ◽  
...  
Keyword(s):  
Comparative Genomic Hybridization ◽  
Genetic Diagnosis ◽  
Clinical Findings ◽  
Comparative Genomic ◽  
Genomic Hybridization ◽  
Spastic Quadriplegia ◽  
Recent Developments ◽  
Genomic Array ◽  
Plp1 Gene ◽  
Pelizaeus Merzbacher Disease

Introduction. Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive hypomyelinating leukodystrophy characterized by nystagmus, spastic quadriplegia, ataxia, and developmental delay. It is caused by mutation in the PLP1 gene. Case Description. We report a 9-year-old boy referred for oligoarray comparative genomic hybridization (OA-CGH) because of intellectual delay, seizures, microcephaly, nystagmus, and spastic paraplegia. Similar clinical findings were reported in his older brother and maternal uncle. Both parents had normal phenotypes. OA-CGH was performed and a 436 Kb duplication was detected and the diagnosis of PMD was made. The mother was carrier of this 436 Kb duplication. Conclusion. Clinical presentation has been accepted as being the mainstay of diagnosis for most conditions. However, recent developments in genetic diagnosis have shown that, in many congenital and sporadic disorders lacking specific phenotypic manifestations, a genotype-to-phenotype approach can be conclusive. In this case, a diagnosis was reached by universal genomic testing, namely, whole genomic array.

PLP1 gene duplication as a cause of the classic form of Pelizaeus-Merzbacher disease – case report

2010 ◽  
Vol 44 (5) ◽  
pp. 511-515 ◽  
Author(s):  
Jacek Mądry ◽  
Dorota Hoffman-Zacharska ◽  
Leszek Królicki ◽  
Maciej Jakuciński ◽  
Andrzej Friedman
Keyword(s):  
Case Report ◽  
Gene Duplication ◽  
Disease Case ◽  
Plp1 Gene ◽  
Classic Form ◽  
Pelizaeus Merzbacher Disease
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