Gnathodiaphyseal dysplasia: Diagnostic clues from two fetal cases and literature review.
Journal
Prenatal diagnosis
ISSN: 1097-0223
Titre abrégé: Prenat Diagn
Pays: England
ID NLM: 8106540
Informations de publication
Date de publication:
23 Jun 2024
23 Jun 2024
Historique:
revised:
13
06
2024
received:
05
02
2024
accepted:
14
06
2024
medline:
26
6
2024
pubmed:
26
6
2024
entrez:
26
6
2024
Statut:
aheadofprint
Résumé
This article presents two fetal cases of gnathodiaphyseal dysplasia (GDD), a rare autosomal dominant disorder, and reviews the relevant literature. The cases involved two fetuses exhibiting bone bowing, which led to the diagnosis of GDD. Genetic testing revealed two de novo variants of the ANO5 gene, confirming the diagnosis. A literature review was conducted to explore GDD's clinical and paraclinical presentation, diagnosis, and management. GDD is a rare but frequently inherited cause of bone fragility and jaw lesions characterized by a gain-of-function variant within the ANO5 gene. Clinical manifestations range from recurrent dental infections with mild jaw lesions to severe bone fragility with several fractures associated with large jaw lesions requiring disfiguring surgeries. Diagnostic techniques depend on the context and include targeted genetic testing of ANO5, untargeted molecular analysis with whole-exome sequencing, or whole-genome sequencing. This case report highlights the importance of recognizing GDD as a novel cause of bone bowing and fractures during pregnancy. By summarizing the literature, this article contributes to healthcare professionals' knowledge and improves the recognition, diagnosis, and care of patients with GDD.
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024 The Author(s). Prenatal Diagnosis published by John Wiley & Sons Ltd.
Références
Akasaka Y, Nakajima T, Koyama K, et al. Familial cases of a new systemic bone disease, hereditary gnatho‐diaphyseal sclerosis. Nihon Seikeigeka Gakkai Zasshi. 1969;43(5):381‐394.
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 Bone Miner Res Off J Am Soc Bone Miner Res. 2001;16(9):1710‐1718. https://doi.org/10.1359/jbmr.2001.16.9.1710
Tsutsumi S, Kamata N, Maruoka Y, et al. Autosomal dominant gnathodiaphyseal dysplasia maps to chromosome 11p14.3‐15.1. J Bone Miner Res Off J Am Soc Bone Miner Res. 2003;18(3):413‐418. https://doi.org/10.1359/jbmr.2003.18.3.413
Tsutsumi S, Kamata N, Vokes TJ, et al. The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD). Am J Hum Genet. 2004;74(6):1255‐1261. https://doi.org/10.1086/421527
Mizuta K, Tsutsumi S, Inoue H, et al. Molecular characterization of GDD1/TMEM16E, the gene product responsible for autosomal dominant gnathodiaphyseal dysplasia. Biochem Biophys Res Commun. 2007;357(1):126‐132. https://doi.org/10.1016/j.bbrc.2007.03.108
Tran TT, Tobiume K, Hirono C, et al. TMEM16E (GDD1) exhibits protein instability and distinct characteristics in chloride channel/pore forming ability. J Cell Physiol. 2014;229(2):181‐190. https://doi.org/10.1002/jcp.24431
Di Zanni E, Gradogna A, Scholz‐Starke J, Boccaccio A. Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia. Cell Mol Life Sci CMLS. 2018;75(9):1657‐1670. https://doi.org/10.1007/s00018‐017‐2704‐9
Shaibani A, Khan S, Shinawi M. Autosomal dominant ANO5‐related disorder associated with myopathy and gnathodiaphyseal dysplasia. Neurol Genet. 2021;7(4):e612. https://doi.org/10.1212/nxg.0000000000000612
Chitty LS, Altman DG. Charts of fetal size: limb bones. BJOG An Int J Obstet Gynaecol. 2002;109(8):919‐929. https://doi.org/10.1111/j.1471‐0528.2002.01022.x
Herman TE, Siegel MJ, Sargar K. Gnathodiaphyseal dysplasia. J Perinatol Off J Calif Perinat Assoc. 2014;34(5):412‐414. https://doi.org/10.1038/jp.2013.178
Yassaee VR, Khojasteh A, Hashemi‐Gorji F, Sadeghi H, Safiaghdam H, Mirfakhraie R. Gnathodiaphyseal dysplasia with a novel genetic variant in a large family from Iran. Mol Genet Genomic Med. 2022;10(9):e2004. https://doi.org/10.1002/mgg3.2004
Marconi C, Brunamonti Binello P, Badiali G, et al. A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree. Eur J Hum Genet EJHG. 2013;21(6):613‐619. https://doi.org/10.1038/ejhg.2012.224
Jin L, Liu Y, Sun F, et al. Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia. Sci Rep. 2017;7(1):40935. https://doi.org/10.1038/srep40935
Kuroda T, Okano I, Sawada T, et al. Recurrent femoral shaft fractures in a child with gnathodiaphyseal dysplasia: a case report. BMC Muscoskel Disord. 2019;20(1):92. https://doi.org/10.1186/s12891‐019‐2464‐9
Zeng B, Liao J, Zhang H, et al. Novel ANO5 mutation c.1067G>T (p.C356F) identified by whole genome sequencing in a big family with atypical gnathodiaphyseal dysplasia. Head Neck. 2019;41(1):230‐238. https://doi.org/10.1002/hed.25516
Li X, Wang L, Wang H, Qin A, Qin X. Ano5 modulates calcium signaling during bone homeostasis in gnathodiaphyseal dysplasia. NPJ Genomic Med. 2022;7(1):48. https://doi.org/10.1038/s41525‐022‐00312‐1
Cormier‐Daire V, Geneviève D, Munnich A, Le Merrer M. New insights in congenital bowing of the femora. Clin Genet. 2004;66(3):169‐176. https://doi.org/10.1111/j.0009‐9163.2004.00307.x
Soontrapa P, Liewluck T. Anoctamin 5 (ANO5) muscle disorders: a narrative review. Genes. 2022;13(10):1736. https://doi.org/10.3390/genes13101736
Duong HA, Le KT, Soulema AL, et al. Gnathodiaphyseal dysplasia: report of a family with a novel mutation of the ANO5 gene. Oral Surg Oral Med Oral Pathol Oral Radiol. 2016;121(5):e123‐e128. https://doi.org/10.1016/j.oooo.2016.01.014
Otaify GA, Whyte MP, Gottesman GS, et al. Gnathodiaphyseal dysplasia: severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5). Bone. 2018;107:161‐171. https://doi.org/10.1016/j.bone.2017.11.012
Nuti R, Brandi ML, Checchia G, et al. Guidelines for the management of osteoporosis and fragility fractures. Intern Emerg Med. 2019;14(1):85‐102. https://doi.org/10.1007/s11739‐018‐1874‐2