A missense mutation of the plasminogen gene in hereditary angioedema with normal C1 inhibitor in Japan

Yakushiji, Hiromasa; Hashimura, Chinami; Fukuoka, Kazuhito; Kaji, Arito; Miyahara, Hisaaki; Kaname, Shinya; Horiuchi, Takahiko

doi:10.1111/all.13550

Cited by 38 publications

(39 citation statements)

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“…Together with the report from Belbezier et al [8], the data indicate that the majority of HAE-PLG patients (ranging between 78-87 %) experience angioedema attacks of the tongue (Table 5), and it was suggested that this was characteristic of HAE-PLG, distinguishing it from HAE-C1-INH (12 %) [13] and HAE-FXII (33 %) [7]. In our study, the percentage of patients who experienced swelling of the tongue was 50 %, similar to a report by Yakushiji et al [9], which is significantly lower than the value reported by Bork et al [7] and only somewhat higher than the average for HAE-FXII.…”

Section: Discussionsupporting

confidence: 90%

“…In our study, the percentage of patients who experienced swelling of the tongue was 50 %, similar to a report by Yakushiji et al. , which is significantly lower than the value reported by Bork et al. and only somewhat higher than the average for HAE‐FXII.…”

Section: Discussionsupporting

confidence: 87%

“…The most consistent finding, from the limited data available so far, is that the risk for swelling of the tongue is elevated (50-87 %) in HAE-PLG, and that swelling of the extremities is a rare phenomenon, seen in none of our patients or patients in the reports of Belzebier et al [8] and Yakushiji et al [9], and in only 10 % of patients examined by Bork et al [7].…”

Section: Discussionsupporting

confidence: 80%

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Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes

Bork

Zibat

Ferrari

et al. 2020

J Deutsche Derma Gesell

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Summary Background Hereditary angioedema (HAE) is a group of genetic diseases characterized by recurrent, painful and potentially lethal tissue swelling. The most common form results from mutations in the SERPING1 gene, leading to reduced function of complement 1 inhibitor (C1‐INH). Rarer forms with normal C1‐INH may arise from mutations in the coagulation factor F12 gene, but mostly the genetic background is unknown. Recently, a novel HAE mutation in the plasminogen (PLG) gene was shown. Patients and methods We analyzed the various clinical manifestations of HAE in 14 related patients using clinical data, biochemical analysis for C1‐INH and C4 as well as gene sequencing. Results Patients’ symptoms were assigned to two different forms of HAE. In ten patients suffering from swelling of the lips or tongue but not of the extremities, a mutation in the PLG gene (c.988A>G) was found whereas in the only four patients with swelling of the gastrointestinal tract and extremities, a mutation in the SERPING1 gene (c.1480C>T) was identified. In two cases this was additional to PLG c.988A>G. Conclusions This unique finding of two different HAE‐specific mutations in a large family not only explains the divergent phenotypes but also supports a genotype‐phenotype correlation showing that abdominal attacks and swelling of the extremities are common with HAE‐C1‐INH but unusual with HAE‐PLG.

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Section: Discussionsupporting

confidence: 90%

Section: Discussionsupporting

confidence: 87%

Section: Discussionsupporting

confidence: 80%

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Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes

Bork

Zibat

Ferrari

et al. 2020

J Deutsche Derma Gesell

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“…Unser Wert ist damit vergleichbar mit den Angaben in einem Bericht von Yakushiji et al. , er ist deutlich niedriger ist als ein von Bork et al. berichteter Wert und nur etwas höher als der Durchschnitt im Falle von HAE‐FXII.…”

Section: Diskussionunclassified

Hereditäres Angioödem in einer Familie mit spezifischen Mutationen sowohl im Plasminogen‐ als auch im SERPING1‐Gen

Bork

Zibat

Ferrari

et al. 2020

J Deutsche Derma Gesell

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Zusammenfassung Hintergrund Die Bezeichnung hereditäres Angioödem (HAE) steht für eine Gruppe genetischer Erkrankungen mit rezidivierenden, schmerzhaften und potenziell lebensbedrohlichen Gewebeschwellungen. Die häufigste Variante des HAE entsteht durch Mutationen im SERPING1‐Gen, die zu einer eingeschränkten Funktion des Komplement‐1‐Inhibitors (C1‐INH) führen. Seltenere Formen mit normaler Funktion des C1‐INH können durch Mutationen im Gen für den Gerinnungsfaktor F12 ausgelöst werden, oft ist der genetische Hintergrund jedoch nicht bekannt. Vor kurzem wurde eine neue HAE‐Mutation im Plasminogen (PLG)‐Gen nachgewiesen. Patienten und Methodik Wir untersuchten die unterschiedlichen klinischen Manifestationen des HAE bei 14 verwandten Patienten mit Hilfe von klinischen Befunden, biochemischen Analysen für C1‐INH und C4 sowie der Gensequenzanalyse. Ergebnisse Die Symptome der Patienten konnten zwei verschiedenen Varianten des HAE zugeordnet werden. Bei zehn Patienten mit Schwellungen von Lippen und Zunge ohne Beteiligung der Extremitäten fanden wir eine Mutation des PLG‐Gens (c.988A>G). Bei vier der 14 Patienten mit Schwellungen im Gastrointestinaltrakt und an den Extremitäten konnten wir eine Mutation im SERPING1‐Gen identifizieren (c.1480C>T). In zweien dieser Fälle bestand zusätzlich eine c.988A>G‐Mutation im PLG‐Gen. Schlussfolgerungen Dieser bisher einmalige Befund von zwei verschiedenen HAE‐spezifischen Mutationen in einer Großfamilie liefert nicht nur eine Erklärung für die divergierenden Phänotypen, sondern legt nahe, dass eine Korrelation zwischen Genotyp und Phänotyp besteht. Abdominale Schübe und Schwellungen an den Extremitäten sind bei HAE‐C1‐INH häufig, bei HAE‐PLG jedoch ungewöhnlich.

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“…These authors comprehensively reviewed all HAE causal genes, including those most recently described, and emphasized the crucial role of next generation sequencing (NGS), specifically whole-exome sequencing (WES), in these recent discoveries. When they dealt with PLG, one of the recently described HAE causal genes, they focused on the p.Lys330Glu mutation, a recurrent mutation described in more than 20 independent families from different European countries and Japan (Belbézier et al, 2018;Bork et al, 2018b;Germenis et al, 2018;Yakushiji et al, 2018;Recke et al, 2019), and also mentioned the p.Lys311Glu variant, described in three patients by Dewald (2018). I would like to clarify that Lys330Glu and Lys311Glu are actually two different names for the same FIGURE 1 | Plasminogen gene structure and location of the c.988A>G/p.Lys330Glu mutation at the DNA and protein level.…”

mentioning

confidence: 99%

Commentary: Bradykinin-Mediated Angioedema: An Update of the Genetic Causes and the Impact of Genomics

Colobran

2020

Front. Genet.

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A missense mutation of the plasminogen gene in hereditary angioedema with normal C1 inhibitor in Japan

Cited by 38 publications

References 10 publications

Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes

Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes

Hereditäres Angioödem in einer Familie mit spezifischen Mutationen sowohl im Plasminogen‐ als auch im SERPING1‐Gen

Commentary: Bradykinin-Mediated Angioedema: An Update of the Genetic Causes and the Impact of Genomics

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