ArticleJournal of human genetics2015
Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites.
Article in Journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 8 citations in OpenAlex.
- Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)-an update.European journal of human genetics : EJHG · 2021Article
- Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4.Scientific reports · 2021Article
- Clinical evaluation and molecular screening of a large consecutive series of albino patients.Journal of human genetics · 2017Article
- Bird Integumentary Melanins: Biosynthesis, Forms, Function and Evolution.International journal of molecular sciences · 2016Review
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Authors and funding
13 authors at 5 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Oculocutaneous albinism (OCA) is characterized by hypopigmentation of the skin, hair and eye, and by ophthalmologic abnormalities caused by a deficiency in melanin biosynthesis. OCA type IV (OCA4) is one of the four commonly recognized forms of albinism, and is determined by mutation in the SLC45A2 gene. Here, we investigated the genetic basis of OCA4 in an Italian child. The mutational screening of the SLC45A2 gene identified two novel potentially pathogenic splicing mutations: a synonymous transition (c.888G>A) involving the last nucleotide of exon 3 and a single-nucleotide insertion (c.1156+2dupT) within the consensus sequence of the donor splice site of intron 5. As computer-assisted analysis for mutant splice-site prediction was not conclusive, we investigated the effects on pre-mRNA splicing of these two variants by using an in vitro minigene approach. Production of mutant transcripts in HeLa cells demonstrated that both mutations cause the almost complete abolishment of the physiologic donor splice site, with the concomitant unmasking of cryptic donor splice sites. To our knowledge, this work represents the first in-depth molecular characterization of splicing defects in a OCA4 patient.
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