title: Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.
abstract: Hermansky-Pudlak syndrome (HPS) (MIM #203300) is a heterogeneous group of autosomal recessive disorders characterized by oculocutaneous albinism (OCA), bleeding tendency, and lysosomal dysfunction. HPS is very common in Puerto Rico (PR), particularly in the northwest part of the island, with a frequency of approximately 1:1,800. Two HPS genes and mutations have been identified in PR, a 16-base pair (bp) duplication in HPS1 and a 3,904-bp deletion in HPS3. In Puerto Ricans with more typical OCA, the most common mutation of the tyrosinase (TYR) (human tyrosinase (OCA1) gene) gene was G47D. We describe screening 229 Puerto Rican OCA patients for these mutations, and for mutations in the OCA2 gene. We found the HPS1 mutation in 42.8% of cases, the HPS3 deletion in 17%, the TYR G47D mutation in 3.0%, and a 2.4-kb deletion of the OCA2 gene in 1.3%. Among Puerto Rican newborns, the frequency of the HPS1 mutation is highest in northwest PR (1:21; 4.8%) and lower in central PR (1:64; 1.6%). The HPS3 gene deletion is most frequent in central PR (1:32; 3.1%). Our findings provide insights into the genetics of albinism and HPS in PR, and provide the basis for genetic screening for these disorders in this minority population.
authors.affiliation: Department of Pediatrics, University of Puerto Rico School of Medicine, San Juan, Puerto Rico.
authors.forename: Pedro J
authors.initials: PJ
authors.lastname: Santiago Borrero
authors.forename: Yolanda
authors.initials: Y
authors.lastname: Rodríguez-Pérez
authors.forename: Jessicca Y
authors.initials: JY
authors.lastname: Renta
authors.forename: Natalio J
authors.initials: NJ
authors.lastname: Izquierdo
authors.forename: Laura
authors.initials: L
authors.lastname: Del Fierro
authors.forename: Daniel
authors.initials: D
authors.lastname: Muñoz
authors.forename: Norma López
authors.initials: NL
authors.lastname: Molina
authors.forename: Sonia
authors.initials: S
authors.lastname: Ramírez
authors.forename: Glorivee
authors.initials: G
authors.lastname: Pagán-Mercado
authors.forename: Idith
authors.initials: I
authors.lastname: Ortíz
authors.forename: Enid
authors.initials: E
authors.lastname: Rivera-Caragol
authors.forename: Richard A
authors.initials: RA
authors.lastname: Spritz
authors.forename: Carmen L
authors.initials: CL
authors.lastname: Cadilla
mesh_terms: D000293:Adolescent; D000328:Adult; D016115:Albinism, Oculocutaneous / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005820:Genetic Testing; D022861:Hermanski-Pudlak Syndrome / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D026901:Membrane Transport Proteins / Q000235:genetics; D008875:Middle Aged; D014442:Monophenol Monooxygenase / Q000235:genetics; D009154:Mutation; D011647:Puerto Rico; D017384:Sequence Deletion
chemical_list: D002352:Carrier Proteins; C102160:HPS1 protein, human; C432680:HPS3 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; C489600:OCA2 protein, human; D014442:Monophenol Monooxygenase