Genetic Testing for Oculocutaneous Albinism Type 1 and 2 and Hermansky–Pudlak Syndrome Type 1 and 3 Mutations in Puerto Rico

Borrero, Pedro J. Santiago; Rodríguez-Pérez, Yolanda; Renta, Jessicca Y.; Izquierdo, Natalio J.; Fierro, Laura del; Muñoz, Daniel; Molina, Norma López; Ramirez, Sonia I.; Pagan-Mercado, G; Ortíz, Idith; Rivera-Caragol, Enid; Spritz, Richard A.; Cadilla, Carmen L.

doi:10.1038/sj.jid.5700034

Cited by 53 publications

(42 citation statements)

References 20 publications

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“…Type 1 HPS occurs with a frequency of one in 1,800 in northwest Puerto Rico due to a founder effect 12 and it has a carrier frequency of 1:21 8 . Torres and co-workers 24 found that type 3 HPS has an average carrier frequency of 1:85 among Puerto Rican newborns.…”

Section: Discussionmentioning

confidence: 99%

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

Jardón

Izquierdo

Renta

et al. 2014

Ophthalmic Genetics

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Purpose To describe and compare ocular findings in patients with Hermansky-Pudlak syndrome (HPS) type 1 and 3. Methods This is a retrospective case series of 64 patients with HPS from 1999 to 2009 evaluated at an outpatient private ophthalmologic clinic. Patients underwent genetic analysis of selected albinism (Tyrosine and P gene) and HPS genes (HPS-1 and HPS-3) by screening for common mutations and exon sequencing with DNA screening. Descriptive and a non-parametric statistical analysis were done. Results Nearly 70% of the patients were homozygous for common Puerto Rican mutations leading to the HPS1 gene (16-BP DUP, 53.6%), while 30% had the 3904-BP DEL HPS3 gene mutation. BCVA was poorer in patients with type 1 HPS than in patients with type 3 HPS (p<0.001), esotropia was more common among type 1 HPS (p<0.018), while exotropia was more common among patients with type 3 HPS. Total iris transillumination was more common in patients with type 1 HPS and minimal iris transillumination in patients with type 3 HPS (p<0.001). The maculae were translucent in patients with type 1 HPS, while patients with type 3 HPS had opaque maculae (p<0.001). Conclusions Patients with type 1 HPS had poorer BCVA, increase incidence of esotropia, lighter iris and macular appearance. In contrast, patients with type 3 HPS 3 had more exotropia. In addition, to our knowledge this is the largest series type 3 HPS ever reported.

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Section: Discussionmentioning

confidence: 99%

“…6–7 HPS is thought to be the most common single-gene disorder in Puerto Rico (PR) where it has been reported to occur 1:1,800. 6,8 Type 1 HPS is the more prevalent in the above mentioned island and have been found to be more common in the northwestern part of it, in contrast to the type 3 HPS which is more common in the central area.…”

Section: Introductionmentioning

confidence: 93%

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

Jardón

Izquierdo

Renta

et al. 2014

Ophthalmic Genetics

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“…In northwest Puerto Rico, 1 in 21 persons is a carrier of the founder mutation (16bp duplication in exon 15 of HPS1 8 ) and 1 in 1800 persons suffers from HPS-1 9 . Due to another founder mutation (3,904bp deletion in HPS3 ), one in 4000 people in central Puerto Rico is affected with HPS-3 10,11 . Multiple other HPS1 mutations have been identified and HPS-1 is also the most common subtype of HPS in non-Puerto Ricans (25%) 1 .…”

Section: Epidemiologymentioning

confidence: 99%

Hermansky-Pudlak Syndrome

El–Chemaly

Young

2016

Clinics in Chest Medicine

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Hermansky-Pudlak Syndrome (HPS) is an autosomal recessive disorder that is associated with oculocutaneous albinism, bleeding diathesis, granulomatous colitis, and highly penetrant pulmonary fibrosis in some subtypes, including HPS-1, HPS-2, and HPS-4. HPS pulmonary fibrosis exhibits many of the clinical, radiologic, and histologic features found in Idiopathic Pulmonary Fibrosis, but occurs at a younger age. All patients with oculocutaneous albinism and easy bruising or bleeding should be screened for HPS, though the degree of albinism is variable and can be subtle. All adult patients with HPS should be screened for pulmonary involvement with chest computerized tomography. Lung biopsy is not required for diagnosis in HPS and is contraindicated because of bleeding complications. Despite knowledge of the underlying genetic defects, there are currently no definitive therapeutic or preventative approaches for HPS pulmonary fibrosis other than lung transplantation. The Hermansky–Pudlak Syndrome Network, Inc. (http://www.hpsnetwork.org) is a support organization available for patients with HPS. Delineating molecular mechanisms responsible for fibrotic susceptibility in HPS holds promise for development of targeted therapies.

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“…Most patients are found in central Puerto Rico, due to a 3,904-bp deletion in the HPS3 gene [6]. Other mutations in the HPS3 gene have been reported in non-Puerto Rican patients.…”

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confidence: 99%

“…The pulmonary tract is affected only mildly or not at all, with slight reductions in forced vital capacity (FVC) [3]. Granulomatous colitis has been described in only two patients with HPS-3 [6]. Only a few patients with HPS-5, HPS-6, HPS-7 and HPS-8 have been diagnosed worldwide.…”

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confidence: 99%