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Using next‐generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities
Author(s) -
Schrader Kasmintan A,
HeraviMoussavi Alireza,
Waters Paula J,
Senz Janine,
Whelan James,
Ha Gavin,
Eydoux Patrice,
Nielsen Torsten,
Gallagher Barry,
Oloumi Arusha,
Boyd Niki,
Fernandez Bridget A,
Young TerryLynn,
Jones Steven JM,
Hirst Martin,
Shah Sohrab P,
Marra Marco A,
Green Jane,
Huntsman David G
Publication year - 2011
Publication title -
the journal of pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.964
H-Index - 184
eISSN - 1096-9896
pISSN - 0022-3417
DOI - 10.1002/path.2941
Subject(s) - retinitis pigmentosa , exome sequencing , genetics , dna sequencing , biology , exome , genetic heterogeneity , phenotype , genetic linkage , candidate gene , gene , bioinformatics
Linkage analysis with subsequent candidate gene sequencing is typically used to diagnose novel inherited syndromes. It is now possible to expedite diagnosis through the sequencing of all coding regions of the genome (the exome) or full genomes. We sequenced the exomes of four members of a family presenting with spondylo‐epiphyseal dysplasia and retinitis pigmentosa and identified a six‐base‐pair (6‐bp) deletion in GNPTG , the gene implicated in mucolipidosis type IIIγ. The diagnosis was confirmed by biochemical studies and both broadens the mucolipidosis type III phenotype and demonstrates the clinical utility of next‐generation sequencing to diagnose rare genetic diseases. Copyright © 2011 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.