Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found

2020 ◽  
Vol 721 ◽  
pp. 134800
Author(s):  
Anna Uhrova Meszarosova ◽  
Pavel Seeman ◽  
Jan Jencik ◽  
Jana Drabova ◽  
Renata Cibochova ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Compound Heterozygous ◽  
Heterozygous State ◽  
Spastic Paraplegia ◽  
Compound Heterozygous State

scholarly journals Novel SPG 11 Mutations in Hereditary Spastic Paraplegia With Thin Corpus Callosum in a Chinese Family

2016 ◽  
Vol 43 (6) ◽  
pp. 833-840
Author(s):  
Xiaojie Tian ◽  
Min Wang ◽  
Kaiyuan Zhang ◽  
Xinqing Zhang
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Gene Mutations ◽  
Protein Product ◽  
Exome Capture ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Spastic Paraplegia ◽  
Reading Frame ◽  
Physical Examinations ◽  
Compound Heterozygous Mutations

AbstractBackground: Hereditary spastic paraplegia (HSP) is a neurodegenerative disease that is characterized by progressive weakness and spasticity of the lower extremities; HSP can present as complicated forms with additional neurological signs. More than 70 disease loci have been described with different modes of inheritance. Methods: In this study, nine subjects from a Chinese family that included two individuals affected by HSP were examined through detailed clinical evaluations, physical examinations, and genetic tests. Targeted exome capture technology was used to identify gene mutations. Results: Two novel compound heterozygous mutations in the SPG 11 gene were identified, c.4001_4002insATAAC and c.4057C>G. The c.4001_4002insATAAC mutation leads to a reading frame shift during transcription, resulting in premature termination of the protein product. The missense mutation c.4057C>G (p.H1353D) is located in a highly conserved domain and is predicted to be a damaging substitution. Conclusions: Based on the results described here, we propose that these novel compound heterozygous mutations in SPG 11 are the genetic cause of autosomal recessive HSP in this Chinese family.

scholarly journals Progressive Early-Onset Leukodystrophy Related to Biallelic Variants in the KARS Gene: The First Case Described in Latin America

Genes ◽  
2020 ◽  
Vol 11 (12) ◽  
pp. 1437
Author(s):  
Adriana Vargas ◽  
Jorge Rojas ◽  
Ivan Aivasovsky ◽  
Sergio Vergara ◽  
Marianna Castellanos ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Gene Mutations ◽  
Mitochondrial Respiratory Chain ◽  
Trna Synthetase ◽  
Transfer Rna ◽  
Compound Heterozygous ◽  
Heterozygous State ◽  
Aminoacyl Trna Synthetase ◽  
First Case ◽  
Compound Heterozygous State

The KARS gene encodes the aminoacyl-tRNA synthetase (aaRS), which activates and joins lysine with its corresponding transfer RNA (tRNA) through the ATP-dependent aminoacylation of the amino acid. KARS gene mutations have been linked to diverse neurologic phenotypes, such as neurosensorial hearing loss, leukodystrophy, microcephaly, developmental delay or regression, peripheral neuropathy, cardiomyopathy, the impairment of the mitochondrial respiratory chain, and hyperlactatemia, among others. This article presents the case of a Colombian pediatric patient with two pathological missense variants in a compound heterozygous state in the KARS gene and, in addition to the case report, the paper reviews the literature for other cases of KARS1-associated leukodystrophy.

Novel Compound Heterozygous Spatacsin Mutations in a Greek Kindred with Hereditary Spastic Paraplegia SPG11 and Dementia

2016 ◽  
Vol 16 (5-6) ◽  
pp. 373-381 ◽  
Author(s):  
Matthew J. Fraidakis ◽  
Maura Brunetti ◽  
Craig Blackstone ◽  
Massimo Filippi ◽  
Adriano Chiò
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Compound Heterozygous ◽  
Spastic Paraplegia

Progressive Early Onset Leukodystrophy Related to Biallelic Variants in the KARS Gene: The First Case Described in Latin America

2020 ◽  
Author(s):  
Adriana Vargas-Niño ◽  
Jorge Rojas-Martinez ◽  
Ivan Aivasovsky-Trotta ◽  
Sergio Vergara-Cardenas ◽  
Marianna Castellanos-Fernandez ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Gene Mutations ◽  
Mitochondrial Respiratory Chain ◽  
Trna Synthetase ◽  
Transfer Rna ◽  
Compound Heterozygous ◽  
Heterozygous State ◽  
Aminoacyl Trna Synthetase ◽  
First Case ◽  
Compound Heterozygous State

The KARS gene encodes the aminoacyl-tRNA synthetase (aaRS) which activates and joins the lysin with its corresponding transfer RNA (tRNA), through the ATP-dependent aminoacylation of the amino acid. The KARS gene mutations have been linked to diverse neurologic phenotypes such as: neurosensorial hearing loss, leukodistrophy, microcephaly, developmental delay or regression, peripheral neuropathy, cardiomyopathy, impairment of the mitochondrial respiratory chain, hyperlactatemia, among others. This article presents the case of a Colombian pediatric patient with two pathological missense variants in a compound heterozygous state in the KARS gene.

Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 gene

2014 ◽  
Vol 261 (9) ◽  
pp. 1825-1827 ◽  
Author(s):  
Maria Pia Giannoccaro ◽  
Rocco Liguori ◽  
Alessia Arnoldi ◽  
Vincenzo Donadio ◽  
Patrizia Avoni ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Hereditary Spastic Paraplegia ◽  
Late Onset ◽  
Compound Heterozygous ◽  
Spastic Paraplegia ◽  
Thin Corpus Callosum ◽  
Compound Heterozygous Mutations

Phenotypic expression of a novel C282Y/R226G compound heterozygous state in HFE hemochromatosis: Molecular dynamics and biochemical studies

2014 ◽  
Vol 52 (1) ◽  
pp. 27-34 ◽  
Author(s):  
Christine Cézard ◽  
Amrathlal Rabbind Singh ◽  
Gérald Le Gac ◽  
Isabelle Gourlaouen ◽  
Claude Ferec ◽  
...  
Keyword(s):  
Molecular Dynamics ◽  
Phenotypic Expression ◽  
Compound Heterozygous ◽  
Heterozygous State ◽  
Biochemical Studies ◽  
Compound Heterozygous State

Identification of a novel factor X deletion in combination with a missense mutation in the F10 gene

2009 ◽  
Vol 29 (02) ◽  
pp. 184-186 ◽  
Author(s):  
J. Oldenburg ◽  
A. Pavlova ◽  
A. Superti-Furga ◽  
B. Zieger ◽  
I. Hainmann
Keyword(s):  
Missense Mutation ◽  
Young Girl ◽  
Therapeutic Options ◽  
Compound Heterozygous ◽  
Heterozygous State ◽  
Factor X ◽  
Factor X Deficiency ◽  
Relationship Of ◽  
Compound Heterozygous State

SummaryThe genotype-phenotype relationship of compound heterozygous factor X deficiency in a young girl with severe factor X deficiency and bleeding symptoms is characterized. We identified a novel deletion of exon 6 and a missense mutation (c.856G>A, Val286Met) in exon 7 of the F10 gene leading to a compound heterozygous state and causing severe factor X deficiency. Therapeutic options for patients with symptomatic factor X deficiency are demonstrated.

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