HNRNPK基因突变致Au-Kline综合征1例并文献复习

徐丹, 陈姚瑶, 甘玲, 曹天思, 楚嫚嫚, 王俊玲, 贾天明, 张晓莉

中国儿童保健杂志 ›› 2024, Vol. 32 ›› Issue (7) : 809-812.

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中国儿童保健杂志 ›› 2024, Vol. 32 ›› Issue (7) : 809-812. DOI: 10.11852/zgetbjzz2023-0867
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HNRNPK基因突变致Au-Kline综合征1例并文献复习

  • 徐丹, 陈姚瑶, 甘玲, 曹天思, 楚嫚嫚, 王俊玲, 贾天明, 张晓莉
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Au-Kline syndrome caused byHNRNPK gene novel mutations:a case report and literature review

  • XU Dan*, CHEN Yao-yao, GAN Ling, CAO Tian-si, CHU Man-man, WANG Jun-ling, JIA Tian-ming, ZHANG Xiao-li
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徐丹, 陈姚瑶, 甘玲, 曹天思, 楚嫚嫚, 王俊玲, 贾天明, 张晓莉. HNRNPK基因突变致Au-Kline综合征1例并文献复习[J]. 中国儿童保健杂志. 2024, 32(7): 809-812 https://doi.org/10.11852/zgetbjzz2023-0867
XU Dan, CHEN Yao-yao, GAN Ling, CAO Tian-si, CHU Man-man, WANG Jun-ling, JIA Tian-ming, ZHANG Xiao-li. Au-Kline syndrome caused byHNRNPK gene novel mutations:a case report and literature review[J]. Chinese Journal of Child Health Care. 2024, 32(7): 809-812 https://doi.org/10.11852/zgetbjzz2023-0867
中图分类号: R725.9   

参考文献

[1] Choufani S, McNiven V, Cytrynbaum C, et al.An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome[J].Am J Hum Genet, 2022, 109(10):1867-1884.
[2] Okamoto N.Okamoto syndrome has features overlapping with Au-Kline syndrome and is caused by HNRNPK mutation[J].Am J Med Genet A, 2019, 179(5):822-826.
[3] Pan X, Liu S, Liu L, et al.Case Report:Exome and RNA sequencing identify a novel de novo missense variant in HNRNPK in a Chinese patient with au-kline syndrome[J].Front Genet, 2022, 13:853028-853028.
[4] Au PYB, Innes AM, Kline AD.Au-Kline syndrome[J].Gene Reviews, 2019.
[5] Au PYB, Goedhart C, Ferguson M, et al.Phenotypic spectrum of Au-Kline syndrome:A report of six new cases and review of the literature[J].Eur J Hum Genet, 2018, 26(9):1272-1281.
[6] Au PYB, You J, Caluseriu O, et al.Gene matcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK[J].Hum Mutat, 2015, 36(10):1009-1014.
[7] Wang Z, Qiu H, He J, et al.The emerging roles of hnRNPK[J].J Cell Physiol, 2020, 235(3):1995-2008.
[8] Yamada M, Shiraishi Y, Uehara T, et al.Diagnostic utility of integrated analysis of exome and transcriptome:Successful diagnosis of Au-Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities[J].Mol Genet Genomic Med, 2020, 8(9):e1364.
[9] Zhu S, Wang Z, Xu J.Connecting versatile incRNAs with heterogeneous nuclear ribonucleoprotein k and pathogenic disorders[J].Trends Biochem Sci, 2019, 44(9):733-736.
[10] Dreyfuss G, Matunis MJ, Pinol-Roma S, et al.hnRNP proteins and the biogenesis of mRNA[J].Annu Rev Biochem, 1993, 62:289-321.
[11] Lubelsky Y, Ulitsky I.Sequences enriched in Alu repeats drive nuclear localization of long RNAs in human cells[J].Nature, 2018, 555(7694):107-111.
[12] Ali MM, Akhade VS, Kosalai ST, et al.PAN-cancer analysis of S-phase enriched lncRNAs identifies oncogenic drivers and biomarkers[J].Nat Commun, 2018, 9(1):883.
[13] Yang R, Zeng Y, Xu H, et al.Heterogeneous nuclear ribonucleoprotein K is overexpressed and associated with poor prognosis in gastric cancer[J].Oncol Rep, 2016, 36(2):929-935.
[14] Wen F, Shen A, Shanas R, et al.Higher expression of the heterogeneous nuclear ribonucleoprotein K in Melanoma[J].Ann Surg Oncol, 2010, 17(10):2619-2627.
[15] Moumen A, Masterson P, O′Connor MJ, et al.hnRNP K:An HDM2 target and transcriptional coactivator of p53 in response to DNA damage[J].Cell, 2005, 123(6):1065-1078.
[16] Barboro P, Ferrari N, Balbi C.Emerging roles of heterogeneous nuclear ribonucleoprotein K (hnRNP K) in cancer progression[J].Cancer Lett, 2014, 352(2):152-159.
[17] Dentici ML, Barresi S, Niceta M, et al.Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency[J].Clin Genet, 2018, 93(2):401-407.

基金

2020年度河南省医学科技攻关计划联合共建项目(LHGJ20200437)

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