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ANO5-associated Gnathodiaphyseal dysplasia with calvarial doughnut lesions: First report in an Asian Indian with an expanded phenotype.

作者信息

Sandal Sapna, Arora Veronica, Verma Ishwar C

机构信息

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.

出版信息

Congenit Anom (Kyoto). 2021 Jan;61(1):25-26. doi: 10.1111/cga.12391. Epub 2020 Sep 15.

DOI:10.1111/cga.12391
PMID:32902009
Abstract
摘要

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1
ANO5-associated Gnathodiaphyseal dysplasia with calvarial doughnut lesions: First report in an Asian Indian with an expanded phenotype.与ANO5相关的伴有颅骨环形病变的颌骨干骺端发育不良：一名具有扩展表型的亚洲印度人的首例报告。
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2
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3
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Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5).下颌骨-骺发育不良：伴有 ANO5 基因（ANO5）新型杂合突变的严重非典型表现
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TMEM16E/ANO5 mutations related to bone dysplasia or muscular dystrophy cause opposite effects on lipid scrambling.TMEM16E/ANO5 基因突变与骨发育不良或肌肉萎缩症有关，会对脂质翻转产生相反的影响。
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Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia.TMEM16E/ANO5 活性混乱的功能获得，该突变与颌骨-骨干发育不良相关。
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引用本文的文献

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A Long-Term (41 Years) Radiographic Follow-Up Study of the Onset and Development of a Jawbone Lesion in a Patient With Gnathodiaphyseal Dysplasia.一项关于颌骨干发育异常患者颌骨病变发生及发展的长期（41年）影像学随访研究。
Cureus. 2025 Jul 25;17(7):e88763. doi: 10.7759/cureus.88763. eCollection 2025 Jul.
2
Anoctamin-5 deficiency enhances ATG9A-dependent autophagy, inducing osteogenesis and gnathodiaphyseal dysplasia-like bone formation. anoctamin-5缺乏增强了ATG9A依赖性自噬，诱导成骨作用和类似颌骨干发育异常的骨形成。
JCI Insight. 2025 Mar 11;10(8). doi: 10.1172/jci.insight.189817. eCollection 2025 Apr 22.
3
Ano5 mutation leads to bone dysfunction of gnathodiaphyseal dysplasia disturbing Akt signaling.
Ano5突变导致颌骨干骺端发育不良的骨骼功能障碍，干扰Akt信号传导。
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Integration of metabolomics and transcriptomics provides insights into enhanced osteogenesis in knock-in mouse model.代谢组学和转录组学的整合为敲入小鼠模型中增强的成骨作用提供了深入了解。
Front Endocrinol (Lausanne). 2023 Jan 20;14:1117111. doi: 10.3389/fendo.2023.1117111. eCollection 2023.
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Gnathodiaphyseal dysplasia with a novel genetic variant in a large family from Iran.下颌骨-骺发育不良伴伊朗一个大家族中的新型遗传变异。
Mol Genet Genomic Med. 2022 Sep;10(9):e2004. doi: 10.1002/mgg3.2004. Epub 2022 Jun 27.