Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31

Sheikh Amer Riazuddin, Laleh Amiri-Kordestani, Haiba Kaul, Tariq Butt, Xiaodong Jiao, Sheikh Riazuddin, J. Fielding Hejtmancik

Research output: Contribution to journalArticle

Abstract

Purpose: To investigate the genetic basis of Marinesco-Sjogren syndrome (MSS) in consanguineous Pakistani families. Methods: Two consanguineous Pakistani families with congenital cataract and muscular dystrophy were enrolled for this study. Detailed ophthalmic and systemic examination including slit lamp microscopy, electromyogram and computed tomography scans were performed to characterize the syndrome. Blood samples were collected from affected and unaffected individuals and a genome wide scan consisting of 382 polymorphic microsatellite markers was performed. Coding exons, exon-intron boundaries, 5′ UTR, and 3′ UTR of the candidate gene SIL1 residing in the linkage interval was sequenced bi-directionally. Results: Clinical examination of the affected members of families 60067 and 60078 revealed features of MSS. The linked interval at chromosome 5q31 harbors SIL1. Sequencing of SIL1 in family 60067 revealed a homozygous substitution; c1240C>T, leading to a premature substitution; p.Q414X. Similarly, sequencing of SIL1 in family 60078 identified a homozygous change; c.274C>T, leading to a non conservative substitution; p.R92W. Conclusion: In conclusion, our data report two novel missense mutations in two consanguineous Pakistani families affected with MSS.

Original languageEnglish (US)
Pages (from-to)1050-1056
Number of pages7
JournalMolecular Vision
Volume15
StatePublished - May 22 2009
Externally publishedYes

Fingerprint

Chromosome Mapping
Spinocerebellar Degenerations
Mutation
Exons
Muscular Dystrophies
5' Untranslated Regions
3' Untranslated Regions
Electromyography
Missense Mutation
Microsatellite Repeats
Cataract
Introns
Chromosomes
Tomography
Genome
Genes

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Riazuddin, S. A., Amiri-Kordestani, L., Kaul, H., Butt, T., Jiao, X., Riazuddin, S., & Hejtmancik, J. F. (2009). Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31. Molecular Vision, 15, 1050-1056.

Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31. / Riazuddin, Sheikh Amer; Amiri-Kordestani, Laleh; Kaul, Haiba; Butt, Tariq; Jiao, Xiaodong; Riazuddin, Sheikh; Hejtmancik, J. Fielding.

In: Molecular Vision, Vol. 15, 22.05.2009, p. 1050-1056.

Research output: Contribution to journalArticle

Riazuddin, SA, Amiri-Kordestani, L, Kaul, H, Butt, T, Jiao, X, Riazuddin, S & Hejtmancik, JF 2009, 'Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31', Molecular Vision, vol. 15, pp. 1050-1056.
Riazuddin SA, Amiri-Kordestani L, Kaul H, Butt T, Jiao X, Riazuddin S et al. Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31. Molecular Vision. 2009 May 22;15:1050-1056.
Riazuddin, Sheikh Amer ; Amiri-Kordestani, Laleh ; Kaul, Haiba ; Butt, Tariq ; Jiao, Xiaodong ; Riazuddin, Sheikh ; Hejtmancik, J. Fielding. / Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31. In: Molecular Vision. 2009 ; Vol. 15. pp. 1050-1056.
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