A novel mutation in a Kazakh family with X-Linked alport syndrome

Barshagul T. Baikara, Elena V. Zholdybayeva, Saule E. Rakhimova, Nazym B. Nigmatullina, Kuvat T. Momynaliev, Yerlan M. Ramanculov

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Alport syndrome is a genetic condition that results in hematuria, progressive renal impairment, hearing loss, and occasionally lenticonus and retinopathy. Approximately 80% of Alport syndrome cases are caused by X-linked mutations in the COL4A5 gene encoding type IV collagen. The objective of this study was to define the SNP profiles for COL4A5 in patients with hereditary nephritis and hematuria. For this, we examined four subjects from one Kazakh family clinically affected with X-linked Alport syndrome due to COL4A5 gene mutations. All 51 exons of the COL4A5 gene were screened by linkage analysis and direct DNA sequencing, resulting in the identification of a novel mutation (G641E) in exon 25. The mutation was found only in two affected family individuals but was not present in healthy family members or 200 unrelated healthy controls. This result demonstrates that this novel mutation is pathogenic and has meaningful implications for the diagnosis of patients with Alport syndrome.

Original languageEnglish
Article numbere0132010
JournalPLoS One
Volume10
Issue number7
DOIs
Publication statusPublished - Jul 13 2015

Fingerprint

Hereditary Nephritis
Exons
Genes
mutation
Mutation
Gene encoding
Collagen Type IV
Audition
hematuria
Hematuria
exons
DNA
retinal diseases
nephritis
genes
hearing
DNA Sequence Analysis
Hearing Loss
Single Nucleotide Polymorphism
linkage (genetics)

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

Cite this

Baikara, B. T., Zholdybayeva, E. V., Rakhimova, S. E., Nigmatullina, N. B., Momynaliev, K. T., & Ramanculov, Y. M. (2015). A novel mutation in a Kazakh family with X-Linked alport syndrome. PLoS One, 10(7), [e0132010]. https://doi.org/10.1371/journal.pone.0132010

A novel mutation in a Kazakh family with X-Linked alport syndrome. / Baikara, Barshagul T.; Zholdybayeva, Elena V.; Rakhimova, Saule E.; Nigmatullina, Nazym B.; Momynaliev, Kuvat T.; Ramanculov, Yerlan M.

In: PLoS One, Vol. 10, No. 7, e0132010, 13.07.2015.

Research output: Contribution to journalArticle

Baikara, BT, Zholdybayeva, EV, Rakhimova, SE, Nigmatullina, NB, Momynaliev, KT & Ramanculov, YM 2015, 'A novel mutation in a Kazakh family with X-Linked alport syndrome', PLoS One, vol. 10, no. 7, e0132010. https://doi.org/10.1371/journal.pone.0132010
Baikara, Barshagul T. ; Zholdybayeva, Elena V. ; Rakhimova, Saule E. ; Nigmatullina, Nazym B. ; Momynaliev, Kuvat T. ; Ramanculov, Yerlan M. / A novel mutation in a Kazakh family with X-Linked alport syndrome. In: PLoS One. 2015 ; Vol. 10, No. 7.
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