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Article

Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.

Gene - 1 Mar 2014

Rimoldi Valeria, Straniero Letizia, Asselta Rosanna, Mauri Lucia, Manfredini Emanuela, Penco Silvana, Gesu Giovanni P, Del Longo Alessandra, Piozzi Elena, Soldà Giulia, Primignani Paola

Abstract excerpt

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 II (OCA2) is one of the four commonly-recognized forms of albinism, and is determined by mutation in the OCA2 gene. In the present study, we investigated the molecular basis of OCA2 in two siblings and one unrelated patient. The...

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Identifiers

PMID: 24361966
DOI: 10.1016/j.gene.2013.11.102

Genes

OCA2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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