Home|Journals|Articles by Year Follow on Twitter

Directory for Medical Articles

Open Access

Case Report

EJMCR. 2020; 4(4): 110-115

Genotype-phenotype variability of DARS mutation - case reports of a trio of siblings

Min Tsui Ong, Josh Willoughby, Daniel J. A. Connolly, Santosh Mordekar, D. D. D. Study, Diana Johnson.

Background: We describe a family with hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL), a rare genetic condition causing motor impairment.
Case Presentation: Whole exome sequencing (DDD study) was performed on the proband who presented with motor symptoms. Sanger sequencing was done on the proband and two affected siblings to validate the result and confirm segregation of the variant with the phenotype. The phenotype and magnetic resonance imaging pattern of the siblings were compared. The index case and her two affected siblings were found to have the same compound heterozygous mutations in the DARS gene. The siblings had milder presentation than previously reported cases, continuing to walk unsupported and have not developed overt spasticity, but have mild upper motor neuron and cerebellar signs. Clinical severity and imaging findings were variable in this family.
Conclusion: We demonstrated intra-familial variability and very mild symptoms in our family with DARS-associated HBSL, widening the phenotypic spectrum of the condition. It is likely that other factors, genetic and environmental, play a role in this variability.

Key words: DARS gene, hypomyelination, aminoacyl-tRNA synthethase

Similar Articles

Biovalue in Human Brain Banking: Applications and Challenges for Research in Neurodegenerative Diseases.
Vedam-Mai V
Methods in molecular biology (Clifton, N.J.). 2022; 2389(): 209-220

Identification of key genes involved in axon regeneration and Wallerian degeneration by weighted gene co-expression network analysis.
Lu Y, Shan Q, Ling M, Ni XA, Mao SS, Yu B, Cao QQ
Neural regeneration research. 2022; 17(4): 911-919

Cerebral dopamine neurotrophic factor transfection in dopamine neurons using neurotensin-polyplex nanoparticles reverses 6-hydroxydopamine-induced nigrostriatal neurodegeneration.
Fernandez-Parrilla MA, Reyes-Corona D, Flores-Martinez YM, Nadella R, Bannon MJ, Escobedo L, Maldonado-Berny M, Santoyo-Salazar J, Soto-Rojas LO, Luna-Herrera C, Ayala-Davila J, Gonzalez-Barrios JA, Flores G, Gutierrez-Castillo ME, Espadas-Alvarez AJ, Martínez-Dávila IA, Nava P, Martinez-Fong D
Neural regeneration research. 2022; 17(4): 854-866

Non-invasive gene delivery across the blood-brain barrier: present and future perspectives.
Kimura S, Harashima H
Neural regeneration research. 2022; 17(4): 785-787

Rapid Antibody Glycoengineering in CHO Cells Via RNA Interference and CGE-LIF N-Glycomics.
Kotidis P, Marbiah M, Donini R, Gómez IA, Del Val IJ, Haslam SM, Polizzi KM, Kontoravdi C
Methods in molecular biology (Clifton, N.J.). 2022; 2370(): 147-167

Full-text options

Latest Statistics about COVID-19
• pubstat.org

Add your Article(s) to Indexes
• citeindex.org

Covid-19 Trends and Statistics
Follow ScopeMed on Twitter
Author Tools
eJPort Journal Hosting
About BiblioMed
License Information
Terms & Conditions
Privacy Policy
Contact Us

The articles in Bibliomed are open access articles licensed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License (https://creativecommons.org/licenses/by-nc-sa/4.0/) which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.
ScopeMed is a Database Service for Scientific Publications. Copyright ScopeMed Information Services.

ScopeMed Web Sites