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X-Linked Spondyloepiphyseal Dysplasia Tarda.
Tiller GE. Tiller GE. 2001 Nov 1 [updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2001 Nov 1 [updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301324 Free Books & Documents. Review.
The molecular diagnosis of X-linked SEDT can be established in a male proband with suggestive findings and a hemizygous pathogenic variant in TRAPPC2 identified by molecular genetic testing. The molecular diagnosis of X-linked SEDT can be established in a female proband wi …
The molecular diagnosis of X-linked SEDT can be established in a male proband with suggestive findings and a hemizygous pathogenic variant i …
Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases.
Won JY, Kim D, Park SY, Lee HR, Lim JS, Park JH, Song MH, Song HR, Kim OH, Kim Y, Cho TJ. Won JY, et al. BMC Med Genet. 2019 May 3;20(1):70. doi: 10.1186/s12881-019-0802-2. BMC Med Genet. 2019. PMID: 31053099 Free PMC article.
CASE PRESENTATION: Here, we report two variants of TRAPPC2 gene of SEDT-XL patients, a missense variant of start codon, c.1A > T, and a deletion variant, c.40delG. ...These findings further contribute to the understanding the clinical picture related to TRAPPC2 g …
CASE PRESENTATION: Here, we report two variants of TRAPPC2 gene of SEDT-XL patients, a missense variant of start codon, c.1A > T, …
A novel missense variant in TRAPPC2 causes X-linked spondyloepiphyseal dysplasia tarda: A case report.
Zhang L, Wang J, Dong G, Wu D, Wu W. Zhang L, et al. Medicine (Baltimore). 2021 Mar 19;100(11):e25169. doi: 10.1097/MD.0000000000025169. Medicine (Baltimore). 2021. PMID: 33726005 Free PMC article.
RATIONALE: X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT) is a rare hereditary cause in childhood short stature due to mutations in trafficking protein particle complex subunit 2 (TRAPPC2) gene located on chromosome Xp22. Several pathogenic variants in TRAP …
RATIONALE: X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT) is a rare hereditary cause in childhood short stature due to mutation …
A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family.
Zhang C, Du C, Ye J, Ye F, Wang R, Luo X, Liang Y. Zhang C, et al. BMC Med Genet. 2020 May 29;21(1):117. doi: 10.1186/s12881-020-01052-8. BMC Med Genet. 2020. PMID: 32471379 Free PMC article.
BACKGROUND: Spondyloepiphyseal dysplasia tarda (SEDT) is a rare X-linked recessive inherited osteochondrodysplasia caused by mutations in the TRAPPC2 gene. It is clinically characterized by disproportionate short stature and early onset of degenerative osteoarthritis. ...B …
BACKGROUND: Spondyloepiphyseal dysplasia tarda (SEDT) is a rare X-linked recessive inherited osteochondrodysplasia caused by mutations in th …
The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability.
Zong M, Wu XG, Chan CW, Choi MY, Chan HC, Tanner JA, Yu S. Zong M, et al. PLoS One. 2011;6(8):e23350. doi: 10.1371/journal.pone.0023350. Epub 2011 Aug 15. PLoS One. 2011. PMID: 21858081 Free PMC article.
Unexpectedly, TRAPPC2 can also bind to the putative TRAPPIII-specific subunit, TRAPPC8. ...Therefore, TRAPPC2 serves as an adaptor for the formation of these complexes. ...
Unexpectedly, TRAPPC2 can also bind to the putative TRAPPIII-specific subunit, TRAPPC8. ...Therefore, TRAPPC2 serves as an ada …
Functional analysis of a novel nonsense variant c.91A>T of the TRAPPC2 gene in a Chinese family with X-linked recessive autosomal spondyloepiphyseal dysplasia tarda.
Lou G, Zhao Y, Zhao H, Zhang Y, Hao B, Qin L, Liu H, Liao S. Lou G, et al. Front Genet. 2023 Aug 25;14:1216592. doi: 10.3389/fgene.2023.1216592. eCollection 2023. Front Genet. 2023. PMID: 37693308 Free PMC article.
Herein, we found a nonsense variant, c.91A>T, of the TRAPPC2 gene in the pedigree. TRAPPC2 mRNA expression levels were significantly decreased in the available peripheral blood cell samples of two affected patients. ...TRAPPC2 knockdown resulted in decreas …
Herein, we found a nonsense variant, c.91A>T, of the TRAPPC2 gene in the pedigree. TRAPPC2 mRNA expression levels were sign …
Novel TRAPPC2 mutation in a boy with X-linked spondylo-epiphyseal dysplasia tarda.
Adachi H, Takahashi I, Takahashi T. Adachi H, et al. Pediatr Int. 2014 Dec;56(6):925-928. doi: 10.1111/ped.12397. Pediatr Int. 2014. PMID: 25521980
X-linked spondylo-epiphyseal dysplasia tarda (SEDT) is an X-linked recessive, late-onset, progressive skeletal disorder characterized by mild-to-moderate short-trunked short stature. X-linked SEDT is caused by mutations in the gene TRAPPC2, which is located on chromosome X …
X-linked spondylo-epiphyseal dysplasia tarda (SEDT) is an X-linked recessive, late-onset, progressive skeletal disorder characterized by mil …
[Mutation analysis of the TRAPPC2 gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda].
Wu X, Deng K, Wang C, Li G, Lin J, Wang R, Wu H, Huang S. Wu X, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Aug;32(4):476-80. doi: 10.3760/cma.j.issn.1003-9406.2015.04.005. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015. PMID: 26252088 Chinese.
The sequences were aligned to the reference sequences from the GenBank to determine mutation site and type. RESULTS: A nucleotide substitution of the splice-donor in TRAPPC2 intron 3, c.93+5G>A, was detected in the proband, but no sequence change was detected in TRAP …
The sequences were aligned to the reference sequences from the GenBank to determine mutation site and type. RESULTS: A nucleotide substituti …
The family reported to have X-linked Dyggve-Melchior-Clausen syndrome instead has X-linked SEDT caused by a novel TRAPPC2 frameshift variant.
Yunis JJ, Yunis LK. Yunis JJ, et al. Clin Genet. 2023 Jun;103(6):720-722. doi: 10.1111/cge.14301. Epub 2023 Jan 26. Clin Genet. 2023. PMID: 36650946
The family reported to have X-linked Dyggve-Melchior-Clausen syndrome instead has X-linked SEDT caused by a novel TRAPPC2 frameshift variant....
The family reported to have X-linked Dyggve-Melchior-Clausen syndrome instead has X-linked SEDT caused by a novel TRAPPC2 frameshift …
78 results