Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities

被引：21

作者：

Schrader, Kasmintan A. ^{[2
,3
]}

Heravi-Moussavi, Alireza

Waters, Paula J. ^{[4
]}

Senz, Janine ^{[2
]}

Whelan, James ^{[5
]}

Ha, Gavin

Eydoux, Patrice ^{[4
]}

Nielsen, Torsten ^{[6
]}

Gallagher, Barry ^{[7
]}

Oloumi, Arusha

Boyd, Niki

Fernandez, Bridget A. ^{[8
]}

Young, Terry-Lynn ^{[8
]}

Jones, Steven J. M.

Hirst, Martin

Shah, Sohrab P.

Marra, Marco A.

Green, Jane ^{[5
,8
]}

Huntsman, David G. ^{[1
,2
]}

机构：

[1] British Columbia Canc Agcy, Ctr Translat & Appl Genom, Vancouver, BC V5Z 4E6, Canada

[2] Univ British Columbia, Dept Pathol & Lab Med, Vancouver, BC V5Z 1M9, Canada

[3] Univ British Columbia, Dept Med Genet, Vancouver, BC V5Z 1M9, Canada

[4] British Columbia Childrens Hosp, Dept Pathol & Lab Med, Vancouver, BC V6H 3V4, Canada

[5] Mem Univ Newfoundland, Dept Ophthalmol, St John, NF, Canada

[6] Vancouver Hosp & Hlth Sci Ctr, Dept Anat Pathol, Vancouver, BC V5Z 1M9, Canada

[7] James Paton Mem Reg Hlth Ctr, Dept Pathol, Gander, NF, Canada

[8] Mem Univ Newfoundland, Discipline Genet, St John, NF, Canada

来源：

JOURNAL OF PATHOLOGY | 2011年 / 225卷 / 01期

关键词：

spondyloepiphyseal dysplasia; retinitis pigmentosa; mucolipidosis type III; exome; GNPTG; next-generation sequencing; familial; PSEUDO-HURLER POLYDYSTROPHY; CONE-ROD DYSTROPHY; MUCOLIPIDOSIS-III; SPONDYLOMETAPHYSEAL DYSPLASIA; GAMMA-SUBUNIT; MUTATIONS; IDENTIFICATION; DELINEATION; VARIANT;

D O I：

10.1002/path.2941

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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 spondyloepiphyseal dysplasia and retinitis pigmentosa and identified a six-base-pair (6-bp) deletion in GNPTG, the gene implicated in mucolipidosis type III gamma. 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.

引用

页码：12 / 18

页数：7