TY - JOUR
T1 - Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31
AU - Riazuddin, S. Amer
AU - Amiri-Kordestani, Laleh
AU - Kaul, Haiba
AU - Butt, Tariq
AU - Jiao, Xiaodong
AU - Riazuddin, Sheikh
AU - Hejtmancik, J. Fielding
PY - 2009/5/22
Y1 - 2009/5/22
N2 - 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.
AB - 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.
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M3 - Article
C2 - 19471582
AN - SCOPUS:66249086232
SN - 1090-0535
VL - 15
SP - 1050
EP - 1056
JO - Molecular vision
JF - Molecular vision
ER -