Inherited protein S deficiency as a reszult of a large duplication mutation of the PROS1 gene detected by multiplex ligation‐dependent probe amplification

Choung, H.-S.; Kim, H.-J.; Gwak, Geum‐Youn; Kim, S.-H.; Kim, D.-K.

doi:10.1111/j.1538-7836.2008.03026.x

Cited by 11 publications

(10 citation statements)

References 12 publications

(14 reference statements)

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“…Among the patients with a decreased level of either protein S or antithrombin, three had hereditary thrombophilia. One patient with PVT had hereditary protein S deficiency from a large deletion (exons 5 through 10) of the PROS1 gene (Choung et al. , 2008).…”

Section: Discussionmentioning

confidence: 99%

Prevalence of overt myeloproliferative neoplasms and JAK2 V617F mutation in Korean patients with splanchnic vein thrombosis

Yoo

Jang

Park

et al. 2011

Int J Lab Hematology

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Section: Discussionmentioning

confidence: 99%

Prevalence of overt myeloproliferative neoplasms and JAK2 V617F mutation in Korean patients with splanchnic vein thrombosis

Yoo

Jang

Park

et al. 2011

Int J Lab Hematology

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“…Three recent case-reports document two large deletions and one large duplication in PROS1 (Choung et al 2008; Yin et al 2007; Yoo et al 2009). In these three studies, MLPA was used to screen for CNVs, underlining the usefulness of this technique for the examination of large gene rearrangements, even in a single patient.…”

Section: Discussionmentioning

confidence: 99%

“…Using segregation analysis, Johansson et al indirectly detected large deletions in several mutation-negative patients with PS deficiency (Johansson et al 2005). Furthermore, three case-reports have been published that used a multiplex ligation-dependent probe amplification analysis (MLPA) which detected two large deletions (Yin et al 2007; Yoo et al 2009) and one large duplication (Choung et al 2008) in patients with PS deficiency. MLPA is a technique that allows the evaluation of multiple fragments from a gene in a single reaction and can detect copy number variation (CNV) involving one or more exons (Schouten et al 2002).…”

Section: Introductionmentioning

confidence: 99%

Gross deletions/duplications in PROS1 are relatively common in point mutation-negative hereditary protein S deficiency

et al. 2009

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Hereditary protein S (PS) deficiency is an autosomal disorder caused by mutations in the PS gene (PROS1). Conventional PCR-based mutation detection identifies PROS1 point mutations in approximately 50% of the cases. To verify if gross copy number variations (CNVs) are often present in point mutation-negative hereditary PS deficiency we used multiplex ligation-dependent probe amplification (MLPA) as a detection tool in samples from individuals with a high probability of having true PS deficiency. To this end, DNA samples from nine PS deficient probands with family members (seven type I and two type III) and nine isolated probands (three type I and six type III), in whom PROS1 mutations were not found by DNA sequencing, were evaluated. An independent quantitative PCR (qPCR) was performed to confirm the findings of the MLPA assay. Family members were also tested when DNA was available. Gross abnormalities of PROS1 were found in six out of eighteen probands. In three probands complete deletion of the gene was detected. Two probands had a partial deletion involving different parts of the gene (one from exon 4 through 9 and another from exon 9 through 11). One family showed a duplication of part of PROS1. qPCR analysis was in accordance with these results. In conclusion, this study substantiates that gross gene abnormalities in PROS1 are relatively common in hereditary PS deficient patients and that MLPA is a useful tool for direct screening of CNVs in PROS1 point mutation-negative individuals.

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“…The CN mutations in these patients were either deletion/duplication of a single exon (Table 1, H3, H5, H8, T3, and T6) or duplication mutation of PROS1 (T1 and T4). 17 A total of 7 patients in our series (41%) had a CN mutation involving a single exon of the coagulation gene, exon 1 accounting for 43% (3 of 7). The segment of CN mutations in 2 of these 3 with exon 1 aberration involved neighboring genes.…”

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confidence: 99%

“…The duplication mutation was previously proven by sequencing analysis. 17 In these 2 cases with PS deficiency, the presence of the pseudogene PROSP, with a high sequence homology with PROS1 (exons 5-10 of PROS1 correspond to exons 1-6 of PROSP) could be a possible mechanism underlying the discrepancy between MLPA and SNP-array results.…”

mentioning

confidence: 99%

Heterogeneous lengths of copy number mutations in human coagulopathy revealed by genome-wide high-density SNP array

Kim¹,

Kim²,

Yoo³

et al. 2011

Haematologica

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Inherited protein S deficiency as a reszult of a large duplication mutation of the PROS1 gene detected by multiplex ligation‐dependent probe amplification

Cited by 11 publications

References 12 publications

Prevalence of overt myeloproliferative neoplasms and JAK2 V617F mutation in Korean patients with splanchnic vein thrombosis

Prevalence of overt myeloproliferative neoplasms and JAK2 V617F mutation in Korean patients with splanchnic vein thrombosis

Gross deletions/duplications in PROS1 are relatively common in point mutation-negative hereditary protein S deficiency

Heterogeneous lengths of copy number mutations in human coagulopathy revealed by genome-wide high-density SNP array

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