Diagnosis of a mild peroxisomal phenotype with next-generation sequencing

被引：24

作者：

Ventura, Meredith J. ^{[1
]}

Wheaton, Dianna ^{[2
,3
]}

Xu, Mingchu ^{[4
]}

Birch, David ^{[2
,3
]}

Bowne, Sara J. ^{[5
]}

Sullivan, Lori S. ^{[5
]}

Daiger, Stephen P. ^{[5
]}

Whitney, Annette E. ^{[6
]}

Jones, Richard O. ^{[7
]}

Moser, Ann B. ^{[7
]}

Chen, Rui ^{[4
]}

Wangler, Michael F. ^{[4
,8
]}

机构：

[1] Baylor Coll Med, Sch Med, Houston, TX 77030 USA

[2] Univ Texas Southwestern, Dept Ophthalmol, Dallas, TX 75390 USA

[3] Retina Fdn Southwest, Dallas, TX 75231 USA

[4] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[5] Univ Texas Hlth Sci Ctr Houston, Sch Publ Hlth, Ctr Human Genet, Houston, TX 77030 USA

[6] Digest Hlth Associates Texas, 7777 Forest Lane B304, Dallas, TX 75230 USA

[7] Kennedy Krieger Inst, Baltimore, MD 21205 USA

[8] Texas Childrens Neurol Res Inst, Houston, TX 77030 USA

来源：

MOLECULAR GENETICS AND METABOLISM REPORTS | 2016年 / 9卷

关键词：

PEX1; p.G843D; Zellweger syndrome spectrum; Peroxisomal biogenesis disorders; Usher syndrome; ZELLWEGER-SYNDROME SPECTRUM; X-LINKED ADRENOLEUKODYSTROPHY; BIOGENESIS DISORDERS; MOLECULAR DIAGNOSIS; PEX1; MUTATIONS; RETINITIS-PIGMENTOSA; PROLONGED SURVIVAL; FATTY-ACIDS; DISEASE; IDENTIFICATION;

D O I：

10.1016/j.ymgmr.2016.10.006

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Peroxisomal biogenesis disorders (PBD) are caused by mutations in PEX genes, and are typically diagnosed with biochemical testing in plasma followed by confirmatory testing. Here we report the unusual diagnostic path of a child homozygous for PEX1 p.G843D. The patient presented with sensorineural hearing loss, pigmentary retinopathy, and normal intellect. After testing for Usher syndrome was negative, he was found to have PBD through a research sequencing panel. When evaluating a patient with hearing loss and pigmentary retinopathy, mild PBD should be on the differential regardless of cognitive function. (C) 2016 The Authors. Published by Elsevier Inc.

引用

页码：75 / 78

页数：4

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