Expanding the genetic and phenotypic spectrum of CHD2 ‐related disease: From early neurodevelopmental disorders to adult‐onset epilepsy

2021 ◽  
Author(s):  
Beatrice De Maria ◽  
Simona Balestrini ◽  
Davide Mei ◽  
Federico Melani ◽  
Simona Pellacani ◽  
...  
Keyword(s):  
Neurodevelopmental Disorders ◽  
Adult Onset ◽  
Related Disease ◽  
Phenotypic Spectrum

scholarly journals Phenotypic spectrum of patients with cystic fibrosis and cystic fibrosis-related disease carrying p.Arg117His

2019 ◽  
Vol 18 (2) ◽  
pp. 265-270 ◽  
Author(s):  
Katherine Keenan ◽  
Annie Dupuis ◽  
Katherine Griffin ◽  
Carlo Castellani ◽  
Elizabeth Tullis ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Related Disease ◽  
Phenotypic Spectrum ◽  
Spectrum Of Patients

scholarly journals Adult Onset Asthma and Periocular Xanthogranuloma (AAPOX), a Rare Entity With a Strong Link to IgG4-Related Disease

Medicine ◽  
2015 ◽  
Vol 94 (43) ◽  
pp. e1916 ◽  
Author(s):  
Jonathan London ◽  
Antoine Martin ◽  
Michael Soussan ◽  
Isabelle Badelon ◽  
Thomas Gille ◽  
...  
Keyword(s):  
Rare Entity ◽  
Adult Onset ◽  
Strong Link ◽  
Related Disease ◽  
Igg4 Related Disease

scholarly journals Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P

Brain ◽  
2007 ◽  
Vol 130 (6) ◽  
pp. 1485-1496 ◽  
Author(s):  
M. C. Walter ◽  
P. Reilich ◽  
A. Huebner ◽  
D. Fischer ◽  
R. Schroder ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Adult Onset ◽  
Phenotypic Spectrum ◽  
Scapuloperoneal Syndrome

scholarly journals Adult-onset asthma and periocular xanthogranulomas associated with systemic IgG4-related disease

2016 ◽  
Vol 1 ◽  
pp. 34-37 ◽  
Author(s):  
Christopher K.H. Burris ◽  
Maria E. Rodriguez ◽  
Meisha L. Raven ◽  
Cat N. Burkat ◽  
Daniel M. Albert
Keyword(s):  
Adult Onset ◽  
Related Disease ◽  
Igg4 Related Disease

Understanding the phenotypic spectrum of ASXL ‐related disease: Ten cases and a review of the literature

2021 ◽  
Author(s):  
Vishnu Anand Cuddapah ◽  
Holly A. Dubbs ◽  
Laura Adang ◽  
Steven L. Kugler ◽  
Elizabeth M. McCormick ◽  
...  
Keyword(s):  
Review Of The Literature ◽  
Related Disease ◽  
Phenotypic Spectrum

scholarly journals A novel TUBG1 mutation with neurodevelopmental disorder caused by malformations of cortical development

2021 ◽  
Vol 2021 ◽  
pp. 1-8
Author(s):  
Ru Shen ◽  
Zhen Zhang ◽  
Yu Zhuang ◽  
Xiaohong Yang ◽  
Lifen Duan
Keyword(s):  
Neurodevelopmental Disorders ◽  
Neurodevelopmental Disorder ◽  
Molecular Genetic ◽  
Cortical Development ◽  
External Ear ◽  
Malformations Of Cortical Development ◽  
Phenotypic Spectrum ◽  
Whole Exome ◽  
Functional Consequences ◽  
Genetic Data Analysis

Neurodevelopmental disorder caused by malformations of cortical development is a rare neurological disease. Heterozygous missense variants in the TUBG1 gene lead to malformations of human cortical development, which further result in intellectual disability, developmental retardation, and epilepsy. To the best of our knowledge, only thirteen patients and a total of nine pathogenic TUBG1 variants have been described in the published literature. This study reports the case details and genetic data analysis of a girl (aged 8 years, 9 months) with developmental delay, psychomotor regression, epilepsy, and left external ear deformity. A novel TUBG1 mutation was identified by whole-exome sequencing and Sanger sequencing, confirming that this mutation may be the cause of the neurodevelopmental disorders. This case report characterizes the phenotypic spectrum, molecular genetic findings, and functional consequences of novel pathogenic TUBG1 variants in neurodevelopmental disorders caused by cortical development malformations.

Successful treatment with rituximab of IgG4-related disease coexisting with adult-onset asthma and periocular xanthogranuloma

2019 ◽  
Vol 40 (4) ◽  
pp. 671-677
Author(s):  
Ioannis Asproudis ◽  
Maria Kanari ◽  
Ioannis Ntountas ◽  
Vasileios Ragos ◽  
Anna Goussia ◽  
...  
Keyword(s):  
Successful Treatment ◽  
Adult Onset ◽  
Related Disease ◽  
Igg4 Related Disease

scholarly journals X-linked dystonia-parkinsonism: over and above a repeat disorder

2021 ◽  
Vol 33 (4) ◽  
pp. 319-324
Author(s):  
Jelena Pozojevic ◽  
Joseph Neos Cruz ◽  
Ana Westenberger
Keyword(s):  
Disease Onset ◽  
Repeat Expansion ◽  
Clinical Parameters ◽  
Adult Onset ◽  
Related Disease ◽  
Hexanucleotide Repeat ◽  
Age Related ◽  
Disease Penetrance ◽  
Molecular Aspects

Abstract X-linked dystonia-parkinsonism (XDP) is an adult-onset neurodegenerative movement disorder, caused by a founder retrotransposon insertion in an intron of the TAF1 gene. This insertion contains a polymorphic hexanucleotide repeat (CCCTCT)n, the length of which inversely correlates with the age at disease onset (AAO) and other clinical parameters, aligning XDP with repeat expansion disorders. Nevertheless, many other pathogenic mechanisms are conceivably at play in XDP, indicating that in contrast to other repeat disorders, the (CCCTCT)n repeat may not be the actual (or only) disease cause. Here, we summarize and discuss genetic and molecular aspects of XDP, highlighting the role of the hexanucleotide repeat in age-related disease penetrance and expressivity.

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