Familial Occurrence of Cavernous Transformation of the Portal Vein

Ramirez, Rebecca O.; Sokol, Ronald J.; Hays, Taru; Silverman, Arnold

doi:10.1097/00005176-199510000-00010

Cited by 3 publications

(2 citation statements)

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“…Sequencing of ACVR1, BMPR1A, BMPR1B, and BMPR2 were all negative for mutations in the proband. Another patient and her father have been described with cavernous transformation of the portal vein and JP, 45 but no mutations of MADH4, BMPR1A, BMPR1B, BMPR2, or ACVR1 were found in this patient. No clear history of PPH or HHT was found in the other 31 cases sequenced for BMPR1B, BMPR2, or ACVR1.…”

Section: Discussionmentioning

confidence: 66%

The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations

Howe

Sayed

Ahmed

et al. 2004

Journal of Medical Genetics

230

189

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Background: Juvenile polyposis (JP) is an autosomal dominant syndrome predisposing to colorectal and gastric cancer. We have identified mutations in two genes causing JP, MADH4 and bone morphogenetic protein receptor 1A (BMPR1A): both are involved in bone morphogenetic protein (BMP) mediated signalling and are members of the TGF-b superfamily. This study determined the prevalence of mutations in MADH4 and BMPR1A, as well as three other BMP/activin pathway candidate genes in a large number of JP patients. Methods: DNA was extracted from the blood of JP patients and used for PCR amplification of each exon of these five genes, using primers flanking each intron-exon boundary. Mutations were determined by comparison to wild type sequences using sequence analysis software. A total of 77 JP cases were sequenced for mutations in the MADH4, BMPR1A, BMPR1B, BMPR2, and/or ACVR1 (activin A receptor) genes. The latter three genes were analysed when MADH4 and BMPR1A sequencing found no mutations. Results: Germline MADH4 mutations were found in 14 cases (18.2%) and BMPR1A mutations in 16 cases (20.8%). No mutations were found in BMPR1B, BMPR2, or ACVR1 in 32 MADH4 and BMPR1A mutation negative cases. Discussion: In the largest series of JP patients reported to date, the prevalence of germline MADH4 and BMPR1A mutations is approximately 20% for each gene. Since mutations were not found in more than half the JP patients, either additional genes predisposing to JP remain to be discovered, or alternate means of inactivation of the two known genes are responsible for these JP cases.

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Section: Discussionmentioning

confidence: 66%

The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations

Howe

Sayed

Ahmed

et al. 2004

Journal of Medical Genetics

230

189

View full text Add to dashboard Cite

show abstract

“…As anomalias descritas são: cardiovasculares (defeito no septo ventricular, septo atrial, veia cava inferior), do trato biliar e urinário (ODIÈVRE et al, 1977). É descrita também a ocorrência familiar de TVP e sua associação com a polipose juvenil, mas o mecanismo envolvido nesse processo é desconhecido (ALVAREZ et al, 1983;RAMIREZ et al, 1995). Outra doença associada com TVP é a fibrose portal não cirrótica, também denominada de hipertensão portal idiopática ou esclerose hepatoportal, que pode ser identificada em 18% dos casos (DILAWARI & CHAWLA, 1988).…”

Section: Introductionunclassified