P gene mutations associated with oculocutaneous albinism type II (OCA2)

Oculocutaneous albinism type II (OCA2) is the most common form of albinism in humans. OCA2 has been previously associated with mutations of the P gene, the human homologue to the murine pink‐eyed dilution gene. The P gene encodes a 110 kDa protein containing 12 potential membrane spanning domains an...

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Bibliographic Details
Published in:Human mutation 2005-03, Vol.25 (3), p.323-323
Main Authors: Oetting, William S., Garrett, Sarah Savage, Brott, Marcia, King, Richard A.
Format: Article
Language:English
Subjects:
albinism
Albinism, Oculocutaneous - classification
Albinism, Oculocutaneous - diagnosis
Albinism, Oculocutaneous - ethnology
Albinism, Oculocutaneous - genetics
Amino Acid Substitution
Asian Continental Ancestry Group - genetics
Child, Preschool
Codon, Nonsense
DNA Mutational Analysis
Europe - ethnology
European Continental Ancestry Group - genetics
Exons - genetics
Eye Color - genetics
Female
Frameshift Mutation
Genotype
Hair Color - genetics
Hispanic Americans - genetics
Humans
Infant
Jews - genetics
Male
Membrane Transport Proteins - genetics
Mutation, Missense
OCA2
P gene
Philippines - ethnology
Point Mutation
Polymorphism, Genetic
RNA Splice Sites - genetics
Sequence Deletion
tyrosinase
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Summary:Oculocutaneous albinism type II (OCA2) is the most common form of albinism in humans. OCA2 has been previously associated with mutations of the P gene, the human homologue to the murine pink‐eyed dilution gene. The P gene encodes a 110 kDa protein containing 12 potential membrane spanning domains and is associated with melanosomal membranes. The specific function of the P protein is currently unknown but is thought to be involved in tyrosinase processing and transport. We report nine novel mutations in the P gene associated with OCA2. These include two missense mutations, c.1938A>C (p.Ile646Val) and c.1556T>C (p.Val519Ala); one nonsense mutation c.612G>A (p.Trp204X); five frameshift mutations: c.2372underscore;2373delTC, c.1555delG, c.1938underscore;1939insC, c.2050delT, and c.1045underscore;1046delAT; and a splice site mutation c.1951+1G>A. We also report 12 novel polymorphisms including one amino acid substitution, c.2365underscore;2366GC>CA (p.Ala789Glu). At present, there is no functional assay to determine if a mutation is truly pathogenic. The presence of numerous polymorphisms of the P gene in the coding region, several of which result in amino acid substitutions, makes molecular diagnosis problematic. To ensure accurate molecular diagnosis, further mutational analysis will be necessary to produce a comprehensive list of mutations associated with OCA2. This information will also help define the critical functional domains of the P protein. Mutations associated with OCA2 can be found in the Albinism Database (http://albinismdb.med.umn.edu). © 2005 Wiley‐Liss, Inc.
ISSN:1059-7794
1098-1004
DOI:10.1002/humu.9318