Novel gross deletion mutation c.‐105_4042+498del in the <i>TNXB</i> gene in a Japanese woman with classical‐like Ehlers–Danlos syndrome: A case of uneventful pregnancy and delivery

Watanabe, Shoko; Ito, Yuki; Samura, Osamu; Nakano, Hajime; Sawamura, Daisuke; Asahina, Akihiko; Itoh, Munenari

doi:10.1111/1346-8138.15837

Cited by 3 publications

(7 citation statements)

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“…Variants found in the current study of patients (P)1–9 are shown in blue, above the mRNA transcript. Previously reported variants ( Burch et al, 1997 ; Schalkwijk et al, 2001 ; Voermans et al, 2009 ; Hendriks et al, 2012 ; Pénisson-Besnier et al, 2013 ; Sakiyama et al, 2015 ; Chen et al, 2016 ; Demirdas et al, 2017 ; Micale et al, 2019 ; Rymen et al, 2019 ; Brisset et al, 2020 ; Green et al, 2020 ; Colman et al, 2021 ; Watanabe et al, 2021 ; Al-Harbi et al, 2022 ; Santoreneos et al, 2022 ) are shown below the mRNA transcript.…”

Section: Resultsmentioning

confidence: 99%

“…Her sister was found to have the one-copy loss of exon 35 in TNXB and CYP21A2, and a mean sTNX concentration of 33 ± 1 ng/mL (29.2% of normal) (Figure 3Ec), confirming her carrier status for clEDS. (Burch et al, 1997;Schalkwijk et al, 2001;Voermans et al, 2009;Hendriks et al, 2012;Pénisson-Besnier et al, 2013;Sakiyama et al, 2015;Chen et al, 2016;Demirdas et al, 2017;Micale et al, 2019;Rymen et al, 2019;Brisset et al, 2020;Green et al, 2020;Colman et al, 2021;Watanabe et al, 2021;Al-Harbi et al, 2022;Santoreneos et al, 2022) are shown below the mRNA transcript.…”

Section: Patientmentioning

confidence: 99%

“…Fifty patients from 43 families with biallelic TNXB variants have been identified ( Burch et al, 1997 ; Schalkwijk et al, 2001 ; Voermans et al, 2009 ; Hendriks et al, 2012 ; Pénisson-Besnier et al, 2013 ; Sakiyama et al, 2015 ; Chen et al, 2016 ; Demirdas et al, 2017 ; Micale et al, 2019 ; Rymen et al, 2019 ; Brisset et al, 2020 ; Green et al, 2020 ; Colman et al, 2021 ; Watanabe et al, 2021 ; Al-Harbi et al, 2022 ; Santoreneos et al, 2022 ). The largest cohort of clEDS (20 patients) was reported by Green et al (2020) , and the second largest was reported by Demirdas et al (2017) , which comprised 11 patients from seven families previously reported by the same authors ( Schalkwijk et al, 2001 ; Voermans et al, 2009 ; Hendriks et al, 2012 ) and six new patients from four families.…”

Section: Introductionmentioning

confidence: 99%

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Clinical and molecular delineation of classical-like Ehlers–Danlos syndrome through a comprehensive next-generation sequencing-based screening system

Yamaguchi,

Yamada,

Nagai

et al. 2023

Front. Genet.

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Classical-like Ehlers–Danlos syndrome (clEDS) is an autosomal recessive disorder caused by complete absence of tenascin-X resulting from biallelic variation in TNXB. Thus far, 50 patients from 43 families with biallelic TNXB variants have been identified. Accurate detection of TNXB variants is challenging because of the presence of the pseudogene TNXA, which can undergo non-allelic homologous recombination. Therefore, we designed a genetic screening system that is performed using similar operations to other next-generation sequencing (NGS) panel analyses and can be applied to accurately detect TNXB variants and the recombination of TNXA-derived sequences into TNXB. Using this system, we identified biallelic TNXB variants in nine unrelated clEDS patients. TNXA-derived variations were found in >75% of the current cohort, comparable to previous reports. The current cohort generally exhibited similar clinical features to patients in previous reports, but had a higher frequency of gastrointestinal complications (e.g., perforation, diverticulitis, gastrointestinal bleeding, intestinal obstruction, rectal/anal prolapse, and gallstones). This report is the first to apply an NGS-based screening for TNXB variants and represents the third largest cohort of clEDS, highlighting the importance of increasing awareness of the risk of gastrointestinal complications.

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Section: Resultsmentioning

confidence: 99%

Section: Patientmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Clinical and molecular delineation of classical-like Ehlers–Danlos syndrome through a comprehensive next-generation sequencing-based screening system

Yamaguchi,

Yamada,

Nagai

et al. 2023

Front. Genet.

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“…However, none of them showed abnormalities during kidney color Doppler ultrasound, such as bladder ureteral reflux. Dr. Deborah P. Merke and others demonstrated that biallelic TNXB variants caused Ehlers‒Danlos syndrome in patients with congenital adrenal hyperplasia ( Merke et al, 2013 ; Watanabe et al, 2021 ; Marino et al, 2022 ). All of the patients had skin hyperextensibility and significant joint hypermobility.…”

Section: Discussionmentioning

confidence: 99%

The same heterozygous Col4A4 mutation triggered different renal pathological changes in Chinese family members

Zhu

Wang

et al. 2023

Front. Genet.

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Background: Mutations in the collagen components of the glomerular basement membrane (GBM) often lead to hereditary glomerulonephritis. Previous studies have identified that autosomal dominant mutations of Col4A3, Col4A4 or Col4A5 are associated with thin basement membrane nephropathy (TBMN), Alport syndrome and other hereditary kidney diseases. However, the genetic mutations underlying other glomerulonephritis types have not been elucidated.Methods: In this study, we investigated a Chinese family with hereditary nephritis using the methods of genetic sequencing and renal biopsy. Genomic DNA was extracted from peripheral blood of the proband and her sister, and subsequently was performed genetic sequencing. They were found to have the similar mutation sites. Other family members were then validated using Sanger sequencing. The proband and her sister underwent renal puncture biopsies, and experienced pathologists performed PAS, Masson, immunofluorescence, and immunoelectron microscopic staining of the kidney tissue sections.Results: Through genetic sequencing analysis, we detected a novel heterozygous frameshift mutation c.1826delC in the COL4A4 (NM_000092.4) gene coding region, and 1 hybrid missense variation c.86G>A (p. R29Q) was also detected in the TNXB (NM_019105.6) gene coding region in several members of this Chinese family. Interestingly, we found that the same mutations caused different clinical features and distinct pathological changes in individual family members, which confirmed that pathological and genetic testing are crucial for the diagnosis and treatment of hereditary kidney diseases.Conclusion: In this study, we found a novel heterozygous mutation in Col4A4 and co-mutations of the TNXB gene in this Chinese family. Our study indicated that the same Col4A4 mutated variants produced different pathological and clinical changes in different family members. This discovery may provide novel insights into the study of hereditary kidney disease. In addition, new genetic biology techniques and renal biopsy of individual family members are essential.

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“…Fifty patients from 43 families with biallelic TNXB variants have been identified (Burch et al, 1997;Schalkwijk et al, 2001;Hendriks et al, 2012;Pénisson-Besnier et al, 2013;Sakiyama et al, 2015;Micale et al, 2019;Rymen et al, 2019;Brisset et al, 2020;Colman et al, 2021;Watanabe et al, 2021;Al-Harbi et al, 2022;Santoreneos et al, 2022). The largest cohort of clEDS (20 patients) was reported by , and the second largest was reported by , which comprised 11 patients from seven families previously reported by the same authors (Schalkwijk et al, 2001;Hendriks et al, 2012) and six new patients from four families.…”

Section: Figurementioning

confidence: 97%

Ehlers-Danlos syndrome: From bedside to bench

2024

Frontiers Research Topics

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Frontiers is more than just an open access publisher of scholarly articles: it is a pioneering approach to the world of academia, radically improving the way scholarly research is managed. The grand vision of Frontiers is a world where all people have an equal opportunity to seek, share and generate knowledge. Frontiers provides immediate and permanent online open access to all its publications, but this alone is not enough to realize our grand goals. Frontiers journal seriesThe Frontiers journal series is a multi-tier and interdisciplinary set of openaccess, online journals, promising a paradigm shift from the current review, selection and dissemination processes in academic publishing. All Frontiers journals are driven by researchers for researchers; therefore, they constitute a service to the scholarly community. At the same time, the Frontiers journal series operates on a revolutionary invention, the tiered publishing system, initially addressing specific communities of scholars, and gradually climbing up to broader public understanding, thus serving the interests of the lay society, too. Dedication to qualityEach Frontiers article is a landmark of the highest quality, thanks to genuinely collaborative interactions between authors and review editors, who include some of the world's best academicians. Research must be certified by peers before entering a stream of knowledge that may eventually reach the public -and shape society; therefore, Frontiers only applies the most rigorous and unbiased reviews. Frontiers revolutionizes research publishing by freely delivering the most outstanding research, evaluated with no bias from both the academic and social point of view. By applying the most advanced information technologies, Frontiers is catapulting scholarly publishing into a new generation. What are Frontiers Research Topics?Frontiers Research Topics are very popular trademarks of the Frontiers journals series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area.

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Novel gross deletion mutation c.‐105_4042+498del in the TNXB gene in a Japanese woman with classical‐like Ehlers–Danlos syndrome: A case of uneventful pregnancy and delivery

Cited by 3 publications

References 5 publications

Clinical and molecular delineation of classical-like Ehlers–Danlos syndrome through a comprehensive next-generation sequencing-based screening system

Clinical and molecular delineation of classical-like Ehlers–Danlos syndrome through a comprehensive next-generation sequencing-based screening system

The same heterozygous Col4A4 mutation triggered different renal pathological changes in Chinese family members

Ehlers-Danlos syndrome: From bedside to bench

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