A novel homozygous nonsense variant in BICD2 underlies hereditary spastic paraplegia complex type | [Pakistan Journal of Zoology • 2020]

Author(s):

1. Sajida Rasool: Institute of Biochemistry and Biotechnology, University of the Punjab,Quaid-I-Azam Campus, Lahore, 54590, Pakistan

2. Saba Irshad: Institute of Biochemistry and Biotechnology, University of the Punjab,Quaid-I-Azam Campus, Lahore, 54590, Pakistan

3. Neelam Saba: Institute of Biochemistry and Biotechnology, University of the Punjab,Quaid-I-Azam Campus, Lahore, 54590, Pakistan

4. Mehak Fiaz: Institute of Biochemistry and Biotechnology, University of the Punjab,Quaid-I-Azam Campus, Lahore, 54590, Pakistan

5. Muhammad Sajid Hussain: Cologne Center for Genomics, University of Cologne,D-50931 Cologne,Germany

6. Muhammad Wajid Hussain: Department of Zoology, Okara University,Okara,Pakistan

7. Peter Nürnberg: Cologne Center for Genomics, University of Cologne,D-50931 Cologne,Germany

Abstract:

Hereditary spastic paraplegia (HSP) are a group of genetically and clinically diverse neurodegenerative ailments with distinguishing feature of lower limbs spasticity and upper motor neuron degeneration. BICD2 is an adaptor protein which regulates the cellular trafficking of cargo molecules crucial for motor neuron growth and maturation. In present study, a Pakistani family of HSP penetrating in autosomal recessive pattern was ascertained. Patients presented spasticity and stiffness of upper and lower limbs, severe microcephaly, dysphagia, no speech, hearing loss and seizures. Genome wide linkage analysis and whole exome sequencing revealed a novel homozygous nonsense mutation (c.204T>G) in BICD2 gene which was predicted to yield a truncated protein product (p. Glu68*). This is first nonsense mutation being reported causing HSP with complex clinical features and early onset. Further, functional exploration will be required for genotype phenotype correlation.

Page(s): 727-732

DOI: 10.17582/journal.pjz/20190122050127

Published: Journal: Pakistan Journal of Zoology, Volume: 52, Issue: 2, Year: 2020

Keywords:

Spasticity , Hereditary Spastic Paraplegia HSP , BICD2 , Nonsense mutation

References:

References are not available for this document.

Citations

Citations are not available for this document.

Citations

Downloads

Views