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FOXI3 pathogenic variants cause one form of craniofacial microsomia

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收录情况： ◇ SCIE ◇ 自然指数

作者：
Ke Mao[1] * ; Christelle Borel[2] * ; Muhammad Ansar[2,3] * ; Angad Jolly[4] ; Periklis Makrythanasis[2,5,6] ; Christine Froehlich[7] ; Justyna Iwaszkiewicz[8] ; Bingqing Wang[9] ; Xiaopeng Xu[1,10] ; Qiang Li[11] ; Xavier Blanc[12] ; Hao Zhu[1] ; Qi Chen[9] ; Fujun Jin[1,10] ; Harinarayana Ankamreddy[13] ; Sunita Singh[14] ; Hongyuan Zhang[4,14] ; Xiaogang Wang[1,10] ; Peiwei Chen[15] ; Emmanuelle Ranza[12] ; Sohail Aziz Paracha[16] ; Syed Fahim Shah[17] ; Valentina Guida [18] ; Francesca Piceci-Sparascio[18] ; Daniela Melis[19] ; Bruno Dallapiccola[20] ; Maria Cristina Digilio[21] ; Antonio Novelli[21] ; Monia Magliozzi[21] ; Maria Teresa Fadda[22] ; Haley Streff[4] ; Keren Machol[4] ; Richard A. Lewis[4] ; Vincent Zoete[8,23] ; Gabriella Maria Squeo[24] ; Paolo Prontera[25] ; Giorgia Mancano[26] ; Giulia Gori [27] ; Milena Mariani[28] ; Angelo Selicorni[28] ; Stavroula Psoni[5] ; Helen Fryssira[5] ; Sofia Douzgou [29,30] ; Sandrine Marlin[31] ; Saskia Biskup[7] ; Alessandro De Luca[18] ; Giuseppe Merla[24,32] ; Shouqin Zhao[15] ; Timothy C. Cox[33] ; Andrew K. Groves[4,14] ; James R. Lupski[4,34,35] ; Qingguo Zhang[9] ; Yong-Biao Zhang[1,10] ; Stylianos E. Antonarakis[2,12,36] ;
机构： [1]School of Engineering Medicine, Beihang University, Beijing 100191, China [2]Department of Genetic Medicine and Development, University of GenevaMedical Faculty, Geneva 1211, Switzerland [3]Jules-Gonin Eye Hospital, Department of Ophthalmology, University of Lausanne, 1004 Lausanne, Switzerland [4]Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA [5]Laboratory of Medical Genetics, Medical School,University of Athens, Athens, Greece [6]Biomedical Research Foundation of the Academy of Athens, Athens, Greece [7]CeGaT GmbH and Praxis für Humangenetik Tuebingen, Tuebingen 72076, Germany [8]Molecular Modeling Group, Swiss Institute of Bioinformatics, Lausanne 1015, Switzerland [9]Plastic SurgeryHospital, Chinese Academy of Medical Sciences, Beijing 100144, China [10]Key Laboratory of Big Data-Based Precision Medicine (Beihang University), Ministryof Industry and Information Technology, Beijing, China [11]Department of Plastic Surgery, Affiliated Hospital of Xuzhou Medical University, Xuzhou 221000,China [12]Medigenome, Swiss Institute of Genomic Medicine, 1207 Geneva, Switzerland [13]Department of Biotechnology, School of Bioengineering, SRMIST,Kattankulathur, Tamilnadu 603203, India [14]Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA [15]Department ofOtolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China [16]Anatomy Department, Khyber MedicalUniversity Institute of Medical Sciences (KIMS), Kohat, Pakistan [17]Department of Medicine, KMU Institute of Medical Sciences (KIMS), DHQ Hospital KDA,Kohat, Pakistan [18]Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy [19]Department of Medicine,Surgery, and Dentistry, Università University degli of Studi di Salerno, Salerno, Italy [20]Medical Genetics and Rare Disease Research Division, PediatricCardiology, Medical Genetics Laboratory, Neuropsychiatry, Scientific Rectorate, Bambino Gesù Children Hospital, IRCCS, Rome, Italy [21]Sezione di GeneticaMedica, Ospedale ‘Bambino Gesù’, Rome, Italy [22]Department of Maxillo-Facial Surgery, Policlinico Umberto I, Rome, Italy [23]Department of Fundamental Oncology, Ludwig Institute for Cancer Research, Lausanne University, Epalinges 1066, Switzerland [24]Laboratory of Regulatory & Functional Genomics,Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy [25]Medical Genetics Unit, Hospital Santa Maria della Misericordia, Perugia, Italy [26]Medical Genetics Unit, University of Perugia Hospital SM della Misericordia, Perugia, Italy [27]Medical Genetics Unit, Meyer Children’s University Hospital,Florence, Italy [28]Pediatric Department, ASST Lariana, Santa Anna General Hospital, Como, Italy [29]Division of Evolution, Infection and Genomics, School ofBiological Sciences, University of Manchester, Manchester, UK [30]Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway [31]Centrede Référence Surdités Génétiques, Hôpital Necker, Institut Imagine, Paris, France [32]Department of Molecular Medicine and Medical Biotechnology, Universityof Naples Federico II, Via S.Pansini 5, 80131 Naples, Italy [33]Departments of Oral & Craniofacial Sciences and Pediatrics, University of Missouri-Kansas City,Kansas City, MO 64108, USA [34]Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA [35]Human Genome Sequencing Center, BaylorCollege of Medicine, Houston, TX 77030, USA [36]iGE3 Institute of Genetics and Genomes in Geneva, Geneva, Switzerland
出处：
DOI： 10.1038/s41467-023-37703-6
ISSN：

摘要：
Craniofacial microsomia (CFM; also known as Goldenhar syndrome), is a craniofacial developmental disorder of variable expressivity and severity with a recognizable set of abnormalities. These birth defects are associated with structures derived from the first and second pharyngeal arches, can occur unilaterally and include ear dysplasia, microtia, preauricular tags and pits, facial asymmetry and other malformations. The inheritance pattern is controversial, and the molecular etiology of this syndrome is largely unknown. A total of 670 patients belonging to unrelated pedigrees with European and Chinese ancestry with CFM, are investigated. We identify 18 likely pathogenic variants in 21 probands (3.1%) in FOXI3. Biochemical experiments on transcriptional activity and subcellular localization of the likely pathogenic FOXI3 variants, and knock-in mouse studies strongly support the involvement of FOXI3 in CFM. Our findings indicate autosomal dominant inheritance with reduced penetrance, and/or autosomal recessive inheritance. The phenotypic expression of the FOXI3 variants is variable. The penetrance of the likely pathogenic variants in the seemingly dominant form is reduced, since a considerable number of such variants in affected individuals were inherited from non-affected parents. Here we provide suggestive evidence that common variation in the FOXI3 allele in trans with the pathogenic variant could modify the phenotypic severity and accounts for the incomplete penetrance.© 2023. The Author(s).

基金：
National Natural Science Foundation of China (82171844 and 81970898 to Y.-B.Z., 81701930 to B.Q.W.); the ChildCare foundation and an ERC grant 249968 to S.E.A.;the United States National Institutes of Health: NINDS R35NS105078; NHGRI/NHLBI UM1HG006542; NHGRI U01HG011758 to J.R.L.; RO1 DC013072 to A.K.G; the Italian Ministry of Health to G.M.
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出版当年[2022]版：
大类 | 1 区 综合性期刊
小类 | 1 区 综合性期刊
最新[2025]版：
大类 | 1 区 综合性期刊
小类 | 1 区 综合性期刊
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出版当年[2021]版：
Q1 MULTIDISCIPLINARY SCIENCES
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Q1 MULTIDISCIPLINARY SCIENCES

影响因子： 最新[2023版] 最新五年平均 出版当年[2021版] 出版当年五年平均 出版前一年[2020版] 出版后一年[2022版]

第一作者：
第一作者机构： [1]School of Engineering Medicine, Beihang University, Beijing 100191, China
共同第一作者：
通讯作者：
通讯机构： [1]School of Engineering Medicine, Beihang University, Beijing 100191, China [2]Department of Genetic Medicine and Development, University of GenevaMedical Faculty, Geneva 1211, Switzerland [10]Key Laboratory of Big Data-Based Precision Medicine (Beihang University), Ministryof Industry and Information Technology, Beijing, China [12]Medigenome, Swiss Institute of Genomic Medicine, 1207 Geneva, Switzerland [36]iGE3 Institute of Genetics and Genomes in Geneva, Geneva, Switzerland
推荐引用方式(GB/T 7714)：
Ke Mao,Christelle Borel,Muhammad Ansar,et al.FOXI3 pathogenic variants cause one form of craniofacial microsomia[J].NATURE COMMUNICATIONS.2023,14(1):2026.doi:10.1038/s41467-023-37703-6.
APA：
Ke Mao,Christelle Borel,Muhammad Ansar,Angad Jolly,Periklis Makrythanasis...&Stylianos E. Antonarakis.(2023).FOXI3 pathogenic variants cause one form of craniofacial microsomia.NATURE COMMUNICATIONS,14,(1)
MLA：
Ke Mao,et al."FOXI3 pathogenic variants cause one form of craniofacial microsomia".NATURE COMMUNICATIONS 14..1(2023):2026

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