Genetic characterization and functional analysis of novel PITX2 variants identified in Chinese families with Axenfeld‑Rieger syndromeOA
Axenfeld‑Rieger syndrome(ARS),initially characterized by Theodor Axenfeld and Herwigh Rieger in the early 20th century[1],is a rare genetic disorder with an estimated prevalence of 1:200,000 in live births[2].This condition is characterized by distinctive anterior segment dysgenesis,including iris stromal hypoplasia,corectopia,and posterior embryotoxon.It is also accompanied by characteristic systemic features such as craniofacial dysmorphism,dental anomalies,cardiovascular malformations,and periumbilical skin redundancy[3,4].
Junqin Xu;Xinyao Wang;Zilin Zhong;Jianjun Chen;Peng Yang
Shanghai Key Laboratory of Anesthesiology and Brain Functional Modulation,Clinical Research Center for Anesthesiology and Perioperative Medicine,Translational Research Institute of Brain and Brain-Like Intelligence,Shanghai Fourth People’s Hospital,School of Life Sciences and Technology,Tongji University,Shanghai 20092,ChinaShanghai Key Laboratory of Anesthesiology and Brain Functional Modulation,Clinical Research Center for Anesthesiology and Perioperative Medicine,Translational Research Institute of Brain and Brain-Like Intelligence,Department of Pediatrics,Shanghai Fourth People’s Hospital,School of Medicine,Tongji University,Shanghai 200434,China Institute of Medical Genetics,Department of Big Data in Health Science School of Public Health and General Practice Medicine,School of Medicine,Tongji University,Shanghai 200092,ChinaShanghai Key Laboratory of Anesthesiology and Brain Functional Modulation,Clinical Research Center for Anesthesiology and Perioperative Medicine,Translational Research Institute of Brain and Brain-Like Intelligence,Department of Pediatrics,Shanghai Fourth People’s Hospital,School of Medicine,Tongji University,Shanghai 200434,China Institute of Medical Genetics,Department of Big Data in Health Science School of Public Health and General Practice Medicine,School of Medicine,Tongji University,Shanghai 200092,China Tongji University School of Medicine,Shanghai 200331,ChinaShanghai Key Laboratory of Anesthesiology and Brain Functional Modulation,Clinical Research Center for Anesthesiology and Perioperative Medicine,Translational Research Institute of Brain and Brain-Like Intelligence,Department of Pediatrics,Shanghai Fourth People’s Hospital,School of Medicine,Tongji University,Shanghai 200434,China Institute of Medical Genetics,Department of Big Data in Health Science School of Public Health and General Practice Medicine,School of Medicine,Tongji University,Shanghai 200092,China Tongji University School of Medicine,Shanghai 200331,ChinaShanghai Key Laboratory of Anesthesiology and Brain Functional Modulation,Clinical Research Center for Anesthesiology and Perioperative Medicine,Translational Research Institute of Brain and Brain-Like Intelligence,Shanghai Fourth People’s Hospital,School of Life Sciences and Technology,Tongji University,Shanghai 20092,China
医药卫生
periumbilical skisystemic featurescraniofacial dysmorphismdentalanterior segment dysgenesisincludingfunctional analysisaxenfeld rieger syndrome ars initiallyiris stromal hypoplasiacorectopiaandgenetic characterization
《Acta Biochimica et Biophysica Sinica》 2026 (5)
P.1179-1182,4
supported by the grants from the Ministry of Science and Technology of China(Nos.2021YFA1101300 and 2020YFA0112500 to J.C.)the National Natural Science Foundation of China(NSFC)(Nos.32470626 and 32271355 to P.Y.)Jiangxi Province’s“Double Thousand Plan”Technology High end Innovative Talents(No.jxsq20231022228 to J.C.).
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