Universität zu Köln

Rasool, Sajida, Irshad, Saba, Saba, Neelam, Fiaz, Mehak, Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809, Hussain, Muhammad Wajid and Nuernberg, Peter (2020). A Novel Homozygous Nonsense Variant in BICD2 Underlies Hereditary Spastic Paraplegia Complex Type. Pak. J. Zool., 52 (2). S. 727 - 733. LAHORE: ZOOLOGICAL SOC PAKISTAN. ISSN 0030-9923

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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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Rasool, Sajida UNSPECIFIED UNSPECIFIED UNSPECIFIED Irshad, Saba UNSPECIFIED UNSPECIFIED UNSPECIFIED Saba, Neelam UNSPECIFIED UNSPECIFIED UNSPECIFIED Fiaz, Mehak UNSPECIFIED UNSPECIFIED UNSPECIFIED Hussain, Muhammad Sajid UNSPECIFIED orcid.org/0000-0002-1353-8809 UNSPECIFIED Hussain, Muhammad Wajid UNSPECIFIED UNSPECIFIED UNSPECIFIED Nuernberg, Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-339792
DOI:	10.17582/journal.pjz/20190122050127
Journal or Publication Title:	Pak. J. Zool.
Volume:	52
Number:	2
Page Range:	S. 727 - 733
Date:	2020
Publisher:	ZOOLOGICAL SOC PAKISTAN
Place of Publication:	LAHORE
ISSN:	0030-9923
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language SPINAL MUSCULAR-ATROPHY; AUTOSOMAL-DOMINANT; GENETIC-HETEROGENEITY; MOTOR ADAPTER; MUTATIONS; IDENTIFICATION; BICAUDAL-D2; FEATURES; PROGRAM; NEURONS Multiple languages Zoology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/33979