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Incomplete cryptic splicing by an intronic mutation of OCRL in patients with partial phenotypes of Lowe syndrome.

Abstract：

:Mutations of OCRL cause Lowe syndrome, which is characterised by congenital cataracts, infantile hypotonia with mental retardation, and renal tubular dysfunction and Dent-2 disease, which only affects the kidney. While few patients with an intermediate phenotype between these diseases have been reported, the mechanism underlying variability in the phenotype is unclear. We identified an intronic mutation, c.2257-5G>A, in intron 20 of OCRL in an older brother with atypical Lowe syndrome without eye involvement and a younger brother with renal phenotype alone. This mutation created a splice acceptor motif that was accompanied by a cryptic premature termination codon at the junction of exons 20 and 21. The mutation caused incomplete alternative splicing, which created a small amount of wild-type transcript and a relatively large amount of alternatively spliced transcript with a premature termination codon. In the patients' cells, the alternatively spliced transcript was degraded by nonsense-mediated decay and the wild-type transcript was significantly decreased, but not completely depleted. These findings imply that an intronic mutation creating an incomplete alternative splicing acceptor site results in a relatively low level of wild-type OCRL mRNA expression, leading to partial phenotypes of Lowe syndrome.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Nakano E,Yoshida A,Miyama Y,Yabuuchi T,Kajiho Y,Kanda S,Miura K,Oka A,Harita Y

doi

10.1038/s10038-020-0773-3

subject

Has Abstract

pub_date

2020-10-01 00:00:00

pages

831-839

issue

10

eissn

1434-5161

issn

1435-232X

pii

10.1038/s10038-020-0773-3

journal_volume

65

pub_type

杂志文章

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