Chromosomal translocation disrupting the <i>SMAD4</i> gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia

Aagaard, Katrine Saldern; Brusgaard, Klaus; Miceikaitė, Ieva; Larsen, Martin Jakob; Kjeldsen, Anette Drøhse; Lester, Emilie Boye; Ousager, Lilian Bomme; Tørring, Pernille Mathiesen

doi:10.1002/mgg3.1498

Cited by 6 publications

(2 citation statements)

References 35 publications

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“…At present, it is believed that the occurrence of HHT is related to mutations in the ENG, 33 ACVRL1 34 and SMAD4 35 genes, which upset the balance between proangiogenic factors and antiangiogenic factors. Pregnancy promotes modification of the vascular bed through related hormonal changes.…”

Section: Discussionmentioning

confidence: 99%

Hereditary haemorrhagic telangiectasia with atrial septal defect and pulmonary hypertension during advanced pregnancy: a case report and literature review

et al. 2022

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Pregnancy complicated with hereditary haemorrhagic telangiectasia (HHT) is a rare condition. This case report presents an extremely rare case with the co-occurrence of HHT and congenital heart disease. In this report, a 43-year-old woman at 36 + 4 weeks of gestation experienced haemoptysis with a volume of approximately 300 ml for the first time. Uncommonly, her transthoracic echocardiogram revealed a previously unrecognized atrial septal defect (ASD) and pulmonary hypertension (PH) for the first time at 36 + 1 weeks of gestation. Chest computed tomography revealed an arteriovenous malformation (AVM) in the right lower lobe of the lung. Due to concerns of rebleeding of ruptured pulmonary arteriovenous malformations (PAVMs), the patient underwent a caesarean section at 36 + 6 weeks of gestation. A healthy male infant weighing 2800 g was delivered. To the best of our knowledge, there have been few reports about HHT with ASDs and PH during advanced pregnancy. This current case report highlights the necessity for clinicians to pay considerable attention to cardiac structural abnormalities, which can worsen PAVM in patients with HHT during pregnancy, for whom terminating the pregnancy in time may reduce the risk of PAVM rupture.

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Section: Discussionmentioning

confidence: 99%

Hereditary haemorrhagic telangiectasia with atrial septal defect and pulmonary hypertension during advanced pregnancy: a case report and literature review

et al. 2022

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“…For the individuals with phenotypic abnormity, the incidence of which was 6.1% in the population with apparently balanced rearrangement ( Wapner et al, 2012 ). Chromosomal rearrangement disrupted the causal gene, and precise breakpoints were especially critical for disease diagnosis ( Redin et al, 2017 ; Aagaard et al, 2020 ; Bonaglia et al, 2020 ; Guenzel et al, 2021 ). As shown in our study, breakage often occurred at highly repetitive regions, and this highlighted another advantage of nanopore sequencing relative to short-read sequencing ( Aristidou et al, 2017 ).…”

Section: Discussionmentioning

confidence: 99%

Detection of a Cryptic 25 bp Deletion and a 269 Kb Microduplication by Nanopore Sequencing in a Seemingly Balanced Translocation Involving the LMLN and LOC105378102 Genes

Wang

Zhang

et al. 2022

Front. Genet.

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Preimplantation genetic testing plays a critical role in enabling a balanced translocation carrier to obtain the normal embryo. Identifying the precise breakpoints for the carriers with phenotypic abnormity, allows us to reveal disrupted genes. In this study, a seemingly balanced translocation 46, XX, t (3; 6) (q29; q26) was first detected using conventional karyotype analysis. To locate the precise breakpoints, whole genomes of DNA were sequenced based on the nanopore GridION platform, and bioinformatic analyses were further confirmed by polymerase-chain-reaction (PCR) and copy number variation (CNV). Nanopore sequencing results were consistent with the karyotype analysis. Meanwhile, two breakpoints were successfully validated using polymerase-chain-reaction and Sanger Sequencing. LOC105378102 and LMLN genes were disrupted at the breakpoint junctions. Notably, observations found that seemingly balanced translocation was unbalanced due to a cryptic 269 kilobases (Kb) microduplication and a 25 bp deletion at the breakpoints of chromosome (chr) 6 and chr 3, respectively. Furthermore, 269 Kb microduplication was also confirmed by copy number variation analyses. In summary, nanopore sequencing was a rapid and direct method for identifying the precise breakpoints of a balanced translocation despite low coverage (3.8×). In addition, cryptic deletion and duplication were able to be detected at the single-nucleotide level.

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Un diagnostic estomaquant !

Morini

Burys

Cazals–Hatem

et al. 2023

Annales de Pathologie

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Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia

Abstract: This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.

Cited by 6 publications

References 35 publications

Hereditary haemorrhagic telangiectasia with atrial septal defect and pulmonary hypertension during advanced pregnancy: a case report and literature review

Hereditary haemorrhagic telangiectasia with atrial septal defect and pulmonary hypertension during advanced pregnancy: a case report and literature review

Detection of a Cryptic 25 bp Deletion and a 269 Kb Microduplication by Nanopore Sequencing in a Seemingly Balanced Translocation Involving the LMLN and LOC105378102 Genes

Un diagnostic estomaquant !

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