Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.
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.
Santiago Borrero
Pedro J
PJ
Department of Pediatrics, University of Puerto Rico School of Medicine, San Juan, Puerto Rico.
Rodríguez-Pérez
Yolanda
Y
Renta
Jessicca Y
JY
Izquierdo
Natalio J
NJ
Del Fierro
Laura
L
Muñoz
Daniel
D
Molina
Norma López
NL
Ramírez
Sonia
S
Pagán-Mercado
Glorivee
G
Ortíz
Idith
I
Rivera-Caragol
Enid
E
Spritz
Richard A
RA
Cadilla
Carmen L
CL
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
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