Whole exome sequencing identifies a novel variant causing cockayne syndrome type I in a consanguineous Pakistani family

Zulfiqar, Shumaila ORCID: 0000-0002-3512-5343, Moawia, Abubakar, Waseem, Syeda Seema, Ali, Zafar ORCID: 0000-0002-2389-3337, Ramzan, Shafaq, Anjum, Iram, Baig, Shahid Mahmood and Tariq, Muhammad ORCID: 0000-0002-5334-403X . Whole exome sequencing identifies a novel variant causing cockayne syndrome type I in a consanguineous Pakistani family. Int. J. Neurosci.. ABINGDON: TAYLOR & FRANCIS LTD. ISSN 1563-5279

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DOI:10.1080/00207454.2022.2082967

Abstract

Background Cockayne syndrome (CS) is a rare neurodegenerative disorder characterized by impaired neurological functions, cachectic dwarfism, microcephaly and photosensitivity. Complementation assays identify two groups of this disorder, CS type I (CSA) and CS type II (CSB), caused by mutations in ERCC8 and ERCC6, respectively. Objectives This study aimed to investigate the genetic basis of a consanguineous Pakistani family with three affected individuals presenting with typical clinical symptoms of CS. Methods We employed whole exome sequencing of the proband and then Sanger sequenced all the family members to confirm its segregation in the family. Different bioinformatics tools were used to predict pathogenicity of this variant. Results Variants were filtered according to the pedigree structure. We identified a novel homozygous variant (c.202A>T; p.Ile68Phe) in ERCC8 gene in the proband. The variant was found to segregate in the family. Conclusions These findings add to the genetic heterogeneity of ERCC8 and expands the mutation spectrum. Also, identification of this variant can facilitate prenatal diagnosis/genetic counselling set ups in Pakistan where this disease largely remains undiagnosed.

Item Type:

Journal Article

Creators:

Creators	Email	ORCID	ORCID Put Code
Zulfiqar, Shumaila	UNSPECIFIED	orcid.org/0000-0002-3512-5343	UNSPECIFIED
Moawia, Abubakar	UNSPECIFIED	UNSPECIFIED	UNSPECIFIED
Waseem, Syeda Seema	UNSPECIFIED	UNSPECIFIED	UNSPECIFIED
Ali, Zafar	UNSPECIFIED	orcid.org/0000-0002-2389-3337	UNSPECIFIED
Ramzan, Shafaq	UNSPECIFIED	UNSPECIFIED	UNSPECIFIED
Anjum, Iram	UNSPECIFIED	UNSPECIFIED	UNSPECIFIED
Baig, Shahid Mahmood	UNSPECIFIED	UNSPECIFIED	UNSPECIFIED
Tariq, Muhammad	UNSPECIFIED	orcid.org/0000-0002-5334-403X	UNSPECIFIED