Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder

被引：8

作者：

Bjorgo, Kathrine ^{[1
]}

Fjaer, Roar ^{[1
]}

Mork, Hanne Haberg ^{[1
]}

Ferdinandusse, Sacha ^{[2
]}

Falkenberg, Kim D. ^{[2
]}

Waterham, Hans R. ^{[2
]}

Oye, Ane-Marte ^{[1
]}

Sikiric, Alma ^{[3
]}

Amundsen, Silja Svanstrom ^{[1
]}

Kulseth, Mari Ann ^{[1
]}

Selmer, Kaja ^{[1
]}

机构：

[1] Oslo Univ Hosp, Dept Med Genet, PB 4956 Nydalen, N-0424 Oslo, Norway

[2] Acad Med Ctr, Lab Genet Metab Dis, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands

[3] Oslo Univ Hosp, Dept Neurohabilitat, PB 4956 Nydalen, N-0424 Oslo, Norway

来源：

MOLECULAR GENETICS AND METABOLISM | 2017年 / 121卷 / 04期

关键词：

PEX3; PEX genes; Zellweger syndrome; Zellweger spectrum disorder; Peroxisomal biogenesis disorder; Cryptic splice site; PEROXISOME BIOGENESIS DISORDERS; COMPLEMENTATION GROUP G; CLINICAL-MANIFESTATIONS; PEX3; IDENTIFICATION; MUTATIONS;

D O I：

10.1016/j.ymgme.2017.06.004

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Patients with PEX3 mutations usually present with a severe form of Zellweger spectrum disorder with death in the first year of life. Whole exome sequencing in adult siblings with intellectual disability revealed a homozygous variant in PEX3 that abolishes the normal splice site. A cryptic acceptor splice site is activated and an in-frame transcript with a deletion is produced. This transcript translates into a protein with residual activity explaining the relatively mild peroxisomal abnormalities and clinical phenotype. (C) 2017 Elsevier Inc All rights reserved.

引用

页码：325 / 328

页数：4

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