Abstract
Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by hypopigmentation of the skin, hair, and eyes accompanied with ophthalmologic abnormalities. Molecular genetic test can confirm the diagnosis of the four subtypes of OCA (OCA1-4). Herein, we report a Chinese family with two patients affected by OCA. Mutations of TYR, OCA2, TYRP1, and SLC45A2 were examined by using PCR-sequencing. Large deletions or duplications of TYR and OCA2 were examined by Multiplex Ligation-dependent Probe Amplification (MLPA) assay. Compound heterozygous mutations of OCA2, (c.808-3C>G and c.2080-2A>G), were identified in both patients characterized with yellow hair and milky skin, heterochromia iridis, and nystagmus. Several computer-assisted approaches predicted that c.808-3C>G and c.2080-2A>G in OCA2 might potentially be pathogenic splicing mutations. No exon rearrangement (deletion/duplication) of TYR and OCA2 was observed in the patients by MLPA analysis. This study suggests that compound heterozygous mutations, (c.808-3C>G and c.2080-2A>G), in OCA2 may be responsible for partial clinical manifestations of OCA.
Highlights
Oculocutaneous albinism (OCA) is a heterogeneous and autosomal recessive disorder with an estimated prevalence of 1/17,000 worldwide, and the carrier rate is approximately 1 in 70
This study suggests that compound heterozygous mutations, (c.808-3C>G and c.2080-2A>G), in OCA2 may be responsible for partial clinical manifestations of OCA
No TYR or TYRP1 mutation was identified in the two patients
Summary
Oculocutaneous albinism (OCA) is a heterogeneous and autosomal recessive disorder with an estimated prevalence of 1/17,000 worldwide, and the carrier rate is approximately 1 in 70. Non-syndromic OCA includes four types, OCA1-4, and the clinical diagnosis of OCA subtype is difficult because of its variable clinical phenotype. OCA1 and OCA2 are the two most frequent types of OCA, making up 50% and 30% of all OCA cases worldwide, respectively [1, 5]. OCA1 is caused by mutations of TYR. OCA2-4, which are somewhat milder, are caused by mutations in OCA2, TYRP1, and SLC45A2, respectively. OCA2 is mainly found in Africa, and the frequencies of OCA3 and OCA4 are approximately 3% and 17% worldwide, respectively [6,7,8]
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