title: Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients.
abstract: Oculocutaneous albinism (OCA) is a genetic disease characterized by the reduction or deficiency of melanin in eyes, skin, and hair. OCA exhibits genetic heterogeneity. Presently, there are four types of OCA named as OCA1, OCA2, OCA3, and OCA4. OCA3 is more common in African born blacks but rarely found in other ethnic populations. Our recent genotyping of patients with OCA of Chinese descent has identified two patients who were not OCA1, OCA2, or OCA4. Examination and analysis of the TYRP1 gene identified them to be having OCA3. PCR and DNA sequencing analysis found that the mutant TYPR1 alleles were present in each of the two patients, c.780-791del/c.1067G>A (p.R356Q) and c.625G>TT (p.G209LfsX1)/c.643C>T (p.H215Y). The c.780-791del and c.1067G>A mutations have been already reported. However, the c.625G>TT and c.643C>T mutations have not been previously reported and were found to be maternal and paternal mutations, respectively. Moreover, population screening and bioinformatic analysis were carried out to determine the effects of these two mutations which revealed that both the mutation were pathogenic. Based on the similar mild phenotype of these two patients, we suggest that OCA3 might be prevalent within the Chinese population.
authors: Department of Medical Genetics, Zhongshan School of Medicine, and Center of Prenatal Diagnosis, First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510080, China.
authors: Kai-hui
authors: KH
authors: Zhang
authors: Zhuo
authors: Z
authors: Li
authors: Jie
authors: J
authors: Lei
authors: Ting
authors: T
authors: Pang
authors: Bei
authors: B
authors: Xu
authors: Wei-ying
authors: WY
authors: Jiang
authors: Hong-yi
authors: HY
authors: Li
mesh_terms: D016115:Albinism, Oculocutaneous / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D000818:Animals; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D019295:Computational Biology; D004252:DNA Mutational Analysis; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation; D010088:Oxidoreductases / Q000235:genetics*; D010641:Phenotype
chemical_list: D008562:Membrane Glycoproteins; D010088:Oxidoreductases; C489799:TYRP1 protein, human