Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka

Molecular Genetics & Genomic Medicine
Shari JavadiyanKathryn P Burdon

Abstract

Pediatric cataract is an important cause of blindness and visual impairment in children. A large proportion of pediatric cataracts are inherited, and many genes have been described for this heterogeneous Mendelian disease. Surveys of schools for the blind in Bhutan, Cambodia, and Sri Lanka have identified many children with this condition and we aimed to identify the genetic causes of inherited cataract in these populations. We screened, in parallel, 51 causative genes for inherited cataracts in 33 probands by Ampliseq enrichment and sequencing on an Ion Torrent PGM. Rare novel protein coding variants were assessed for segregation in family members, where possible, by Sanger sequencing. We identified 24 rare (frequency <1% in public databases) or novel protein coding variants in 12 probands and confirmed segregation of variants with disease in the extended family where possible. Of these, six are predicted to be the cause of disease in the patient, with four other variants also highly likely to be pathogenic. This study found that 20%-30% of patients in these countries have a mutation in a known cataract causing gene, which is considerably lower than the 60%-70% reported in Caucasian cohorts. This suggests that additional catar...Continue Reading

References

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Feb 14, 2007·Archives of Ophthalmology·Alan Shiels, J Fielding Hejtmancik
Mar 24, 2007·Bioinformatics·Triinu Koressaar, Maido Remm
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil R Sunyaev
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Mar 9, 2017·European Journal of Human Genetics : EJHG·Owen M SiggsJamie E Craig

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Citations

Dec 27, 2018·Ophthalmic Genetics·Yanghui XiuYihua Zhu
Jan 25, 2020·Journal of Medical Primatology·Thobile NgqanekaChesa G Chauke
Jul 8, 2021·Clinical & Experimental Ophthalmology·Kathryn P Burdon

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Methods Mentioned

BETA
genotyping

Software Mentioned

PhyloP
gnomAD
Mutation Taster
SIFT
Polyphen
Torrent Suite
Primer3
Ampliseq
Ion AmpliSeq Designer tool
Ion Reporter

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