Newborn Screening for Hermansky-pudlak Syndrome Type 3 in Puerto Rico

Overview

Journal J Pediatr Hematol Oncol

Specialty Pediatrics

Date 2010 Jun 22

PMID 20562649

Citations 5

Authors

Maribel Torres-Serrant

Sonia I Ramirez

Carmen L Cadilla

Gilberto Ramos-Valencia

Pedro J Santiago-Borrero

Affiliations

Soon will be listed here.

Abstract

Background: Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by albinism, mucocutaneous bleeding, and storage of ceroid material in macrophages. Patients who are not easily identified by physical characteristics (mostly HPS-3 patients) may have hemorrhagic complications with trauma or surgery.

Objective: To determine the prevalence of HPS-3 in Puerto Rican newborns using DNA pooling technique.

Design/methods: Twelve percent of annual Puerto Rican births were tested randomly by polymerase chain reaction for the HPS-3 mutation, using pooled DNA extracted from dried blood samples.

Results: HPS-3 mutation was detected in 75 samples. Two newborns were found to be homozygous. Carrier frequency was 1:85 (1.18%).

Conclusions: The HPS-3 carrier frequency found (1.18%) justifies universal newborn screening in Puerto Rico. DNA pooling reduces time and labor in newborn screening thus facilitating early diagnosis and treatment of children with HPS-3 and the provision of genetic counseling to parents and relatives.

Citing Articles

Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the gene.

Marek-Yagel D, Abudi-Sinreich S, Macarov M, Veber A, Shalva N, Philosoph A Front Genet. 2022; 13:936064.

PMID: 36046236 PMC: 9420964. DOI: 10.3389/fgene.2022.936064.

Dermatologic manifestations in patients with the Hermansky-Pudlak syndrome types 1 and 3.

Malave G, Izquierdo N, Sanchez N Orphanet J Rare Dis. 2022; 17(1):305.

PMID: 35907869 PMC: 9338640. DOI: 10.1186/s13023-022-02464-w.

Hermansky-Pudlak syndrome: Mutation update.

Huizing M, Malicdan M, Wang J, Pri-Chen H, Hess R, Fischer R Hum Mutat. 2020; 41(3):543-580.

PMID: 31898847 PMC: 8175076. DOI: 10.1002/humu.23968.

Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3).

Jardon J, Izquierdo N, Renta J, Garcia-Rodriguez O, Cadilla C Ophthalmic Genet. 2014; 37(1):89-94.

PMID: 24766090 PMC: 4232478. DOI: 10.3109/13816810.2014.907920.

Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico.

Mahadeo K, Diop-Bove N, Ramirez S, Cadilla C, Rivera E, Martin M J Pediatr. 2011; 159(4):623-7.e1.

PMID: 21489556 PMC: 3935241. DOI: 10.1016/j.jpeds.2011.03.005.

References

Choudhry S, Coyle N, Tang H, Salari K, Lind D, Clark S . Population stratification confounds genetic association studies among Latinos. Hum Genet. 2005; 118(5):652-64. DOI: 10.1007/s00439-005-0071-3. View

Harmon K, Witkop C, White J, King R, Peterson M, Moore D . Pathogenesis of pulmonary fibrosis: platelet-derived growth factor precedes structural alterations in the Hermansky-Pudlak syndrome. J Lab Clin Med. 1994; 123(4):617-27. View

Arn P . Newborn screening: current status. Health Aff (Millwood). 2007; 26(2):559-66. DOI: 10.1377/hlthaff.26.2.559. View

Li W, Zhang Q, Oiso N, Novak E, Gautam R, OBrien E . Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet. 2003; 35(1):84-9. PMC: 2860733. DOI: 10.1038/ng1229. View

Huizing M, Anikster Y, Fitzpatrick D, Jeong A, DSouza M, Rausche M . Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. Am J Hum Genet. 2001; 69(5):1022-32. PMC: 1274349. DOI: 10.1086/324168. View

Anikster Y, Huizing M, White J, Shevchenko Y, Fitzpatrick D, Touchman J . Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nat Genet. 2001; 28(4):376-80. DOI: 10.1038/ng576. View

Sham P, Bader J, Craig I, ODonovan M, Owen M . DNA Pooling: a tool for large-scale association studies. Nat Rev Genet. 2002; 3(11):862-71. DOI: 10.1038/nrg930. View

. Molecular genetic testing in pediatric practice: A subject review. Committee on Genetics. Pediatrics. 2000; 106(6):1494-7. DOI: 10.1542/peds.106.6.1494. View

Witkop C, Krumwiede M, SEDANO H, White J . Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome. Am J Hematol. 1987; 26(4):305-11. DOI: 10.1002/ajh.2830260403. View

10.

Richmond B, Huizing M, Knapp J, Koshoffer A, Zhao Y, Gahl W . Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking. J Invest Dermatol. 2005; 124(2):420-7. PMC: 1635963. DOI: 10.1111/j.0022-202X.2004.23585.x. View

11.

Schinella R, Greco M, Cobert B, Denmark L, Cox R . Hermansky-Pudlak syndrome with granulomatous colitis. Ann Intern Med. 1980; 92(1):20-3. DOI: 10.7326/0003-4819-92-1-20. View

12.

Martinez-Cruzado J, Toro-Labrador G, Viera-Vera J, Rivera-Vega M, Startek J, Latorre-Esteves M . Reconstructing the population history of Puerto Rico by means of mtDNA phylogeographic analysis. Am J Phys Anthropol. 2005; 128(1):131-55. DOI: 10.1002/ajpa.20108. View

13.

Witkop C, Nunez Babcock M, Rao G, Gaudier F, Summers C, Shanahan F . Albinism and Hermansky-Pudlak syndrome in Puerto Rico. Bol Asoc Med P R. 1990; 82(8):333-9. View

14.

Ruano G, Duconge J, Windemuth A, Cadilla C, Kocherla M, Villagra D . Physiogenomic analysis of the Puerto Rican population. Pharmacogenomics. 2009; 10(4):565-77. PMC: 2846824. DOI: 10.2217/pgs.09.5. View

15.

Huizing M, Boissy R, Gahl W . Hermansky-Pudlak syndrome: vesicle formation from yeast to man. Pigment Cell Res. 2002; 15(6):405-19. DOI: 10.1034/j.1600-0749.2002.02074.x. View

16.

Santiago Borrero P, Rodriguez-Perez Y, Renta J, Izquierdo N, Del Fierro L, Munoz D . Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. J Invest Dermatol. 2006; 126(1):85-90. PMC: 3560388. DOI: 10.1038/sj.jid.5700034. View

17.

Oh J, Bailin T, Fukai K, Feng G, Ho L, Mao J . Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet. 1996; 14(3):300-6. DOI: 10.1038/ng1196-300. View

18.

HERMANSKY F, PUDLAK P . Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood. 1959; 14(2):162-9. View

19.

Wei M . Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function. Pigment Cell Res. 2006; 19(1):19-42. DOI: 10.1111/j.1600-0749.2005.00289.x. View