Clinical analysis of ANO5 non-frameshift insertion mutation GDD family and generation of the induced pluripotent stem cells

doi:10.19438/j.cjoms.2024.01.003

China Journal of Oral and Maxillofacial Surgery ›› 2024, Vol. 22 ›› Issue (1): 16-22.doi: 10.19438/j.cjoms.2024.01.003

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Clinical analysis of ANO5 non-frameshift insertion mutation GDD family and generation of the induced pluripotent stem cells

WANG Zhou-yang¹, LING Xiao¹, SHI Yan-ni¹, WANG Lei², QIN Xing-jun¹

1. Department of Oromaxillofacial Head and Neck Oncology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine; College of Stomatology, Shanghai Jiao Tong University; National Center for Stomatology; National Clinical Research Center for Oral Diseases; Shanghai Key Laboratory of Stomatology. Shanghai 200011, China;
2. Institut für Biochemie, Freie Universität Berlin. Berlin 14195, Germany;

Received:2023-06-15 Revised:2023-07-19 Online:2024-01-20 Published:2024-02-05

Abstract

Abstract: PURPOSE: To generate and identify gnathodiaphyseal dysplasia(GDD) patient and healthy donor derived induced pluripotent stem cells from a Chinese GDD family caused by a mutation in ANO5 gene. METHODS: The clinical manifestations, skeletal radiographic features, bone mineral density (BMD), and bone turn over biomarkers were investigated of 5 patients from a Chinese GDD family with facial deformities. Peripheral blood mononuclear cells(PBMCs) from one patient and one non-patient were collected and transfected with sendai virus carrying Oct4, Sox2 and Klf4 to be reprogrammed into iPSCs. The pluripotency was tested by alkaline phosphatase staining, immune-fluorescence, qPCR, and karyotyping analysis. RESULTS: GDD was mainly manifested as diffuse expansive swelling of maxilla and mandible with reduced bone mineral density throughout the body. iPSCs derived from PBMCs of the patient and the healthy donor maintained pluripotency. CONCLUSIONS: PBMCs of GDD patient are successfully reprogrammed into integration-free iPSCs with the pluripotency. These iPSCs provide a valuable cell model for mechanism exploration.

Key words: Gnathodiaphyseal dysplasia, ANO5 gene, Phenotype, Induced pluripotent stem cells

CLC Number:

R739.8

WANG Zhou-yang, LING Xiao, SHI Yan-ni, WANG Lei, QIN Xing-jun. Clinical analysis of ANO5 non-frameshift insertion mutation GDD family and generation of the induced pluripotent stem cells[J]. China Journal of Oral and Maxillofacial Surgery, 2024, 22(1): 16-22.

References

[1] Akasaka Y, Nakajima T, Koyama K, et al.Familial cases of a new systemic bone disease, hereditary gnatho-diaphyseal sclerosis[J]. Nihon Seikeigeka Gakkai Zasshi, 1969, 43(5): 381-394.
[2] Riminucci M, Collins MT, Corsi A, et al.Gnathodiaphyseal dysplasia: a syndrome of fibro-osseous lesions of jawbones, bone fragility, and long bone bowing[J]. J Bone Mineral Res, 2001, 16(9): 1710-1718.
[3] Li X, Wang L, Wang HW, et al.Ano5 modulates calcium signaling during bone homeostasis in gnathodiaphyseal dysplasia[J]. NPJ Genom Med, 2022, 7(1):48-51.
[4] Takahashi K, Yamanaka S.Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors[J]. Cell, 2006, 126(4): 663-676.
[5] Deyle DR, Khan IF, Ren G, et al.Normal collagen and bone production by gene-targeted human osteogenesis imperfecta iPSCs[J]. Mol Ther, 2012, 20(1): 204-213.
[6] Kao CL, Tai LK, Chiou SH, et al.Resveratrol promotes osteogenic differentiation and protects against dexamethasone damage in murine induced pluripotent stem cells[J]. Stem Cells Dev, 2010, 19(2): 247-258.
[7] Nasu A, Ikeya M, Yamamoto T, et al.Genetically matched human iPS cells reveal that propensity for cartilage and bone differentiation differs with clones, not cell type of origin[J]. PLoS One, 2013, 8(1): e53771.
[8] Okamoto H, Matsumi Y, Hoshikawa Y, et al.Involvement of microRNAs in regulation of osteoblastic differentiation in mouse induced pluripotent stem cells[J]. PLoS One, 2012, 7(8): e43800.
[9] Jang Y, Choi J, Park N, et al.Development of immunocompatible pluripotent stem cells via CRISPR-based human leukocyte antigen engineering[J]. Exp Mol Med, 2019, 51(1): 1-11.
[10] Lee G, Ramirez CN, Kim H, et al.Large-scale screening using familial dysautonomia induced pluripotent stem cells identifies compounds that rescue IKBKAP expression[J]. Nat Biotechnol, 2012, 30(12): 1244-1248.
[11] Takeda R, Yasui T, Kasai T, et al. Surgical treatment of pathological tibial shaft fracture in adult patient with gnathodiaphyseal dysplasia: a case report [J]. JBJS Case Connect, 2021, 11(2): e21.00005.
[12] Otaify GA, Whyte MP, Gottesman GS, et al.Gnathodiaphyseal dysplasia: severe atypical presentation with novel heterozygous mutation of the anoctamin gene(ANO5)[J]. Bone, 2018, 107(1): 161-171.
[13] Pedemonte N, Galietta LJ.Structure and function of TMEM16 proteins (anoctamins)[J]. Physiol Rev, 2014, 94(2): 419-459.
[14] Jin L, Liu Y, Sun F,et al.Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia[J]. Sci Rep, 2017, 7: 40935.
[15] Tsutsumi S, Kamata N, Vokes TJ, et al.The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD)[J]. Am J Hum Genet, 2004, 74(6): 1255-1261.
[16] Li HY, Wang XY, Chen EJ, et al.Introduction of a Cys360Tyr mutation in ANO5 creates a mouse model for gnathodiaphyseal dysplasia[J]. J Bone Mineral Res, 2022, 37(3): 515-530.
[17] Rolvien T, Avci O, Von kroge S, et al. Gnathodiaphyseal dysplasia is not recapitulated in a respective mouse model carrying a mutation of the Ano5 gene[J]. Bone Rep, 2020, 12:100281.
[18] Wang XY, Liu X, Dong R, et al.Genetic disruption of anoctamin 5 in mice replicates human gnathodiaphyseal dysplasia (GDD)[J]. Calcif Tissue Int, 2019, 104(6): 679-689.
[19] Di Zanni E, Gradogna A, Picco C, et al.TMEM16E/ANO5 mutations related to bone dysplasia or muscular dystrophy cause opposite effects on lipid scrambling[J]. Hum Mutat, 2020, 41(6): 1157-1170.
[20] Di Zanni E, Gradogna A, Scholz-starke J, et al. Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia[J]. Cell Mol Life Sci, 2018, 75(9): 1657-1670.
[21] Choi J, Lee S, Mallard W, et al.A comparison of genetically matched cell lines reveals the equivalence of human iPSCs and ESCs[J]. Nat Biotechnol, 2015, 33(11): 1173-1181.
[22] Guan J, Wang G, Wang J, et al.Chemical reprogramming of human somatic cells to pluripotent stem cells[J]. Nature, 2022, 605(7909): 325-331.

Clinical analysis of ANO5 non-frameshift insertion mutation GDD family and generation of the induced pluripotent stem cells

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