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A harlequin ichthyosis pig model with a novel ABCA12 mutation can be rescued by acitretin treatment

Journal of Molecular Cell Biology 2019年第12期11卷 1029-1041页

作者： Xiao Wang Chunwei Cao Yongshun Li Tang Hai Qitao Jia Ying Zhang Qiantao Zheng Jing Yao Guosong Qin Hongyong Zhang Ruigao Song Yanfang Wang Guanghou Shui Sin Man Lam Zhonghua Liu Hong Wei Anming Meng Qi Zhou Jianguo Zhao State Key Laboratory of Stem Cell and Reproductive Biology Institute of ZoologyChinese Academy of SciencesBeijing 100101China University of Chinese Academy of Sciences Beijing 100049China State Key Laboratory of Animal Nutrition Institute of Animal ScienceChinese Academy of Agricultural SciencesBeijing 100081China State Key Laboratory of Molecular Developmental Biology Institute of Genetics and Developmental BiologyChinese Academy of SciencesBeijing 100101China College of Life Science Northeast Agricultural University of ChinaHarbin 150030China Department of Laboratory Animal Science College of Basic Medical SciencesThird Military Medical UniversityChongqing 400038China School of Life Sciences Tsinghua UniversityBeijing 100084China Chinese Swine Mutagenesis Consortium Beijing 100101China

harlequin ichthyosis (HI) is a severe genetic skin disorder and caused by mutation in the ATP-binding cassette A12 (ABCA12) gene. The retinoid administration has dramatically improved long-term survival of HI, but improvements are still needed. However, the ABCA12 null mice failed to respond to retinoid treatment, which impedes the development of novel cure strategies for HI. Here we generated an ethylnitrosourea mutagenic HI pig model (named Z9), which carries a novel deep intronic mutation IVS49-727 A>G in the ABCA12 gene, resulting in abnormal mRNA splicing and truncated protein production. Z9 pigs exhibit significant clinical symptom as human patients with HI. Most importantly, systemic retinoid treatment significantly prolonged the life span of the mutant pigs via improving epidermal maturation, decreasing epidermal apoptosis, and triggering the expression of ABCA6. Taken together, this pig model perfectly resembles the clinical symptom and molecular pathology of patients with HI and will be useful for understanding mechanistic insight and developing therapeutic strategies.

关键词： harlequin ichthyosis ABCA12 pig model acitretin ENU mutagenesis deep intronic mutation

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Prenatal Diagnosis of harlequin ichthyosis:A Case Report

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Maternal-Fetal Medicine 2020年第4期2卷 244-247页

作者： Xia Qiu-Ling Wang Xing Huang Shuai Li Jun-Nan Department of Obstetrics and Fetal Medicine Unit the First Affiliated Hospital of Chongqing Medical UniversityChongqing 400016China

harlequin ichthyosis is a severe autosomal recessive skin *** deaths occur within the first few days after birth,and the survivors still have severe chronic skin disease throughout their *** all cases were associated with a pathogenic variant of adenosine triphosphate binding cassette transporter,subfamily A,member 12(ABCA12)*** described a case of HI diagnosed by ultrasound examination during the second-trimester and genetic diagnosis reveal two novel heterozygous ABCA12 mutations c.2563-2570delinsGGCAATT,p.(Leu855Glyfs*13),and c.6116delT,p.(Met2039Argfs*8)by the next-generation DNA sequencing,which further enriched our understanding of the pathogenic variation of ABCA12 gene.

关键词： Prenatal diagnosis harlequin ichthyosis Ultrasound Gene Adenosine triphosphate binding cassette transporter,subfamily A,member 12(ABCA12)

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