Mutations of the P Gene in Oculocutaneous Albinism, Ocular Albinism, and Prader-Willi Syndrome Plus Albinism

Abstract

Abnormalities of the P gene are associated with a wide range of clinical phenotypes, including type II oculocutaneous albinism, albinism associated with the Prader-Willi syndrome, and at least some cases of autosomal recessive ocular albinism.

Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf–Hirschhorn syndrome

“…This mechanism was demonstrated in patients with Angelman/Prader Willi syndrome with a deletion in the 15q11 -q13 region, in combination with oculocutaneous albinism related to hemizygous mutations in the P gene. 26,27 In addition, unmasking a recessive deafness allele in the MYO15A is associated with sensorineural deafness in a patient with Smith -Magenis syndrome carrying the common 17p11.2 deletion. 28 Here, we demonstrate for the first time that a similar combination of a deletion and a recessive mutation may explain complex phenotypes of certain patients with WHS or WFS.…”

Clinical and genetic aspects of Angelman syndrome

“…33 The OCA2 gene encodes a protein important in tyrosine metabolism that is associated with the development of pigment in the skin, hair, and irides. In some children with AS, this hypopigmentation can be so severe that a form of albinism is suspected.…”

Pink-eyed Dilution Protein Controls the Processing of Tyrosinase

“…Oculocutaneous albinism type 2 (OCA2), the most common form of albinism worldwide (Ramsay et al, 1992;Durham-Pierre et al, 1994), results from mutations in the pink-eyed dilution gene (p) (Lee et al, 1994). In contrast to oculocutaneous albinism type 1, which results from Tyr mutations, patients with OCA2 express active TYR (King et al, 1985).…”