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Genome sequencing in congenital cataracts improves diagnostic yield.
Ma, Alan; Grigg, John R; Flaherty, Maree; Smith, James; Minoche, Andre E; Cowley, Mark J; Nash, Benjamin M; Ho, Gladys; Gayagay, Thet; Lai, Tiffany; Farnsworth, Elizabeth; Hackett, Emma L; Slater, Katrina; Wong, Karen; Holman, Katherine J; Jenkins, Gemma; Cheng, Anson; Martin, Frank; Brown, Natasha J; Leighton, Sarah E; Amor, David J; Goel, Himanshu; Dinger, Marcel E; Bennetts, Bruce; Jamieson, Robyn V.
Afiliación
  • Ma A; Eye Genetics Research Unit, The Children's Hospital at Westmead, Save Sight Institute, Children's Medical Research Institute, University of Sydney, Sydney, New South Wales, Australia.
  • Grigg JR; Department of Clinical Genetics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Flaherty M; Specialties of Genomic Medicine & Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.
  • Smith J; Eye Genetics Research Unit, The Children's Hospital at Westmead, Save Sight Institute, Children's Medical Research Institute, University of Sydney, Sydney, New South Wales, Australia.
  • Minoche AE; Department of Ophthalmology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Cowley MJ; Specialty of Ophthalmology, University of Sydney, Sydney, New South Wales, Australia.
  • Nash BM; Save Sight Institute, Sydney Eye Hospital, Sydney, New South Wales, Australia.
  • Ho G; Department of Ophthalmology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Gayagay T; Specialty of Ophthalmology, University of Sydney, Sydney, New South Wales, Australia.
  • Lai T; Department of Ophthalmology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Farnsworth E; Specialty of Ophthalmology, University of Sydney, Sydney, New South Wales, Australia.
  • Hackett EL; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
  • Slater K; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
  • Wong K; Children's Cancer Institute, Lowy Cancer Research Centre, University of New South Wales, Randwick, New South Wales, Australia.
  • Holman KJ; St Vincent's Clinical School, Faculty of Medicine, UNSW Australia, Sydney, New South Wales, Australia.
  • Jenkins G; Eye Genetics Research Unit, The Children's Hospital at Westmead, Save Sight Institute, Children's Medical Research Institute, University of Sydney, Sydney, New South Wales, Australia.
  • Cheng A; Specialties of Genomic Medicine & Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.
  • Martin F; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Brown NJ; Specialties of Genomic Medicine & Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.
  • Leighton SE; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Amor DJ; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Goel H; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Dinger ME; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Bennetts B; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Jamieson RV; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Hum Mutat ; 42(9): 1173-1183, 2021 09.
Article en En | MEDLINE | ID: mdl-34101287
ABSTRACT
Congenital cataracts are one of the major causes of childhood-onset blindness around the world. Genetic diagnosis provides benefits through avoidance of unnecessary tests, surveillance of extraocular features, and genetic family information. In this study, we demonstrate the value of genome sequencing in improving diagnostic yield in congenital cataract patients and families. We applied genome sequencing to investigate 20 probands with congenital cataracts. We examined the added value of genome sequencing across a total cohort of 52 probands, including 14 unable to be diagnosed using previous microarray and exome or panel-based approaches. Although exome or genome sequencing would have detected the variants in 35/52 (67%) of the cases, specific advantages of genome sequencing led to additional diagnoses in 10% (5/52) of the overall cohort, and we achieved an overall diagnostic rate of 77% (40/52). Specific benefits of genome sequencing were due to detection of small copy number variants (2), indels in repetitive regions (2) or single-nucleotide variants (SNVs) in GC-rich regions (1), not detectable on the previous microarray, exome sequencing, or panel-based approaches. In other cases, SNVs were identified in cataract disease genes, including those newly identified since our previous study. This study highlights the additional yield of genome sequencing in congenital cataracts.
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Catarata / Exoma Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Catarata / Exoma Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article