title: Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4.
abstract: Oculocutaneous albinism (OCA) is caused by a deficiency of melanin synthesis and characterized by generalized hypopigmentation of skin, hair, and eyes. Due to the hypopigmentation of the retinal pigment epithelium, OCA is usually associated with congenital visual impairment, in addition to an increased risk of skin cancer. OCA is a genetically heterogeneous disease with distinct types resulting from mutations in different genes involved in the pathway which results in pigmentation. OCA1 is associated with mutations in the TYR gene encoding tyrosinase. OCA2 results from mutations in the P gene encoding the P protein and is the most common form of OCA. OCA3, also known as rufous/red albinism, is caused by mutations in the TYRP1 gene, which encodes the tyrosinase-related protein 1. Recently, OCA4 was described as a new form of OCA in a single patient with a splice site mutation in the MATP gene (or AIM1), the human ortholog of the murine underwhite gene. The similarity of MATP to transporter proteins suggests its involvement in transport functions, although its actual substrate is still unclear. We screened 176 German patients with albinism for mutations within the MATP gene and identified five individuals with OCA4. In this first report on West European patients, we describe 10 so far unpublished mutations, as well as two intronic variations, in addition to two known polymorphisms.
authors.affiliation: Institut für Humangenetik der Universität Lübeck, Lübeck, Germany.
authors.forename: Uta
authors.initials: U
authors.lastname: Rundshagen
authors.affiliation: Institut für Humangenetik der Universität Lübeck, Lübeck, Germany.
authors.forename: Christine
authors.initials: C
authors.lastname: Zühlke
authors.affiliation: Institut für Humangenetik der Universität Lübeck, Lübeck, Germany.
authors.forename: Sven
authors.initials: S
authors.lastname: Opitz
authors.affiliation: Institut für Humangenetik der Universität Lübeck, Lübeck, Germany.
authors.forename: Eberhard
authors.initials: E
authors.lastname: Schwinger
authors.affiliation: Augenklinik der Universität des Saarlandes, Homburg (Saar), Germany.
authors.forename: Barbara
authors.initials: B
authors.lastname: Käsmann-Kellner
mesh_terms: D000328:Adult; D016115:Albinism, Oculocutaneous / Q000235:genetics*; D000951:Antigens, Neoplasm; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D005858:Germany; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D026901:Membrane Transport Proteins; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics
chemical_list: D000951:Antigens, Neoplasm; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; C510061:SLC45A2 protein, human