Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ANTXR2 Gene

Youssefian, Leila; Vahidnezhad, Hassan; Aghighi, Yahya; Ziaee, Vahid; Zeinali, Sirous; Abiri, Maryam; Uitto, Jouni

doi:10.2340/00015555-2459

Cited by 11 publications

(10 citation statements)

References 10 publications

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“…In these extremely rare Mendelian disorders, all reported variants were homozygous, and all subjects had consanguineous parents. [13][14][15][16] In contrast to very rare Mendelian disorders as mentioned above, the rate of parental consanguinity is lower in more prevalent autosomal recessive single gene diseases. For instance, 92% of the patients with recessive dystrophic epidermolysis bullosa (RDEB) (OMIM # 226600) had consanguineous parents.…”

Section: Discussionmentioning

confidence: 99%

Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes

et al. 2017

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There are at least 38 mutant genes known to be associated with the ichthyosis phenotypes, and autosomal recessive congenital ichthyosis (ARCI) is a specific subgroup caused by mutations in 13 different genes. Mutations in some of these genes, such as CERS3 with only two previous reports, are rare. In this study, we identified mutations in candidate genes in consanguineous families with ARCI with a next generation sequencing (NGS) array that incorporates 38 ichthyosis associated genes. We applied this sequencing array to DNA from 140 ichthyosis families with high prevalence of consanguinity. Among these patients we identified six distinct, previously unreported mutations in CERS3 in six Iranian families. These mutations in each family co-segregated with the ichthyosis phenotype. The patients demonstrated collodion membrane at birth, acrogeria, generalized scaling, and hyperlinearity of the palms and soles. The presence of a significant percentage of CERS3 mutations in our cohort depicts a marked difference between the etiology of ichthyoses in genetically poorly characterized regions and well-characterized western populations. Also, it shows that rare alleles are more prevalent in the gene pool of consanguineous populations and emphasizes the importance of these population studies for better understanding of ichthyosis pathogenesis.

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Section: Discussionmentioning

confidence: 99%

Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes

et al. 2017

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“…ANTXR cell adhesion molecule 2 ( ANTXR2 ), also known as CMG2 , encodes a 55‐kDa type I transmembrane protein serves as capillary morphogenesis protein 2 (Youssefian et al, ). ANTXR2 also known as the main receptor of the anthrax toxin (Scobie, Rainey, Bradley, & Young, ).…”

Section: Discussionmentioning

confidence: 99%

Identification of key genes and upstream regulators in ischemic stroke

Zhang

Chen

et al. 2019

Brain and Behavior

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Introduction Ischemic stroke (IS) causes severe neurological impairments and physical disabilities and has a high economic burden. Our study aims to identify the key genes and upstream regulators in IS by integrated microarray analysis. Methods An integrated analysis of microarray studies of IS was performed to identify the differentially expressed genes (DEGs) in IS compared to normal control. Based on these DEGs, we performed the functional annotation and transcriptional regulatory network constructions. Quantitative real‐time polymerase chain reaction (qRT‐PCR) was performed to verify the expression of DEGs. Results From two Gene Expression Omnibus datasets obtained, we obtained 1526 DEGs (534 up‐regulated and 992 down‐regulated genes) between IS and normal control. The results of functional annotation showed that Oxidative phosphorylation and Alzheimer's disease were significantly enriched pathways in IS. Top four transcription factors (TFs) with the most downstream genes including PAX4, POU2F1, ELK1, and NKX2‐5. The expression of six genes (ID3, ICAM2, DCTPP1, ANTXR2, DUSP1, and RGS2) was detected by qRT‐PCR. Except for DUSP1 and RGS2, the other four genes in qRT‐PCR played the same pattern with that in our integrated analysis. Conclusions The dysregulation of these six genes may involve with the process of ischemic stroke (IS). Four TFs (PAX4, POU2F1, ELK1 and NKX2‐5) were concluded to play a role in IS. Our finding provided clues for exploring mechanism and developing novel diagnostic and therapeutic strategies for IS.

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“…Although it was discovered in the process of angiogenesis, the previous understanding to CMG2 focused on its role as a receptor-mediated anthrax toxin into host cells to exert toxic effects [21], and mutations in multiple genes can cause a rare but serious hereditary disease, i.e. hyaline fibromatosis syndrome [27]. The study on CMG2 as a receptor-mediated toxin to enter cells focuses on its molecular structure, and mutations in multiple sites have led to the occurrence of the hyaline fibromatosis syndrome, suggesting that it may be associated with abnormal collagen metabolism.…”

Section: Discussionmentioning

confidence: 99%

Promotive effects of capillary morphogenetic protein 2 on glioma cell invasion and the molecular mechanism

Xu¹,

He²,

Wu³

et al. 2019

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We aimed to explore the role of capillary morphogenetic protein 2 (CMG2) in glioma cell invasion and the possible molecular mechanism. Glioma cells U87 and U251 stably overexpressing CMG2 were constructed by lentiviral transfection. The changes of cell invasion and migration were tested by Matrigel-transwell assay and scratch assay, respectively. A mouse model with orthotopically transplanted tumour was established to evaluate the effects of CMG2 overexpression on the in vivo invasion of glioma cells and survival time. The differences of filopodia and lamellar pseudopodia among glioma cells with different CMG2 expressions were observed by immunofluorescence assay. The expressions of YAP and p-YAP in glioma cells overexpressing CMG2 or not were compared by Western blot. Compared with the control group, overexpression of CMG2 enhanced the invasion and migration capacities of glioma cells (p < 0.05). The tumour tissues of mice transplanted with glioma cells overexpressing CMG2 were obviously invaded, and their survival time was significantly shortened (p < 0.05). Immunofluorescence staining showed that glioma cells overexpressing CMG2 formed more lamellipodia and filopodia than those of the control group. As glioma cells overexpressing CMG2 formed more pseudopodia, the expression of YAP, a key effector protein of the Hippo pathway, was up-regulated. CMG2 promoted the invasion of glioma cells, and may induce pseudopodium formation by up-regulating YAP expression.

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Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ANTXR2 Gene

Cited by 11 publications

References 10 publications

Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes

Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes

Identification of key genes and upstream regulators in ischemic stroke

Promotive effects of capillary morphogenetic protein 2 on glioma cell invasion and the molecular mechanism

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