PUF60基因新发变异致Verheij综合征1例报告并文献复习

钟瑶瑶, 张立琴, 李朔, 冀永娟, 李俊新

中国儿童保健杂志 ›› 2023, Vol. 31 ›› Issue (1) : 113-116.

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中国儿童保健杂志 ›› 2023, Vol. 31 ›› Issue (1) : 113-116. DOI: 10.11852/zgetbjzz2022-0356
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PUF60基因新发变异致Verheij综合征1例报告并文献复习

  • 钟瑶瑶, 张立琴, 李朔, 冀永娟, 李俊新
作者信息 +

Case report and literature review of PUF60 gene de novo mutation related Verheij syndrome

  • ZHONG Yao-yao, ZHANG Li-qin, LI Shuo, JI Yong-juan, LI Jun-xin
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钟瑶瑶, 张立琴, 李朔, 冀永娟, 李俊新. PUF60基因新发变异致Verheij综合征1例报告并文献复习[J]. 中国儿童保健杂志. 2023, 31(1): 113-116 https://doi.org/10.11852/zgetbjzz2022-0356
ZHONG Yao-yao, ZHANG Li-qin, LI Shuo, JI Yong-juan, LI Jun-xin. Case report and literature review of PUF60 gene de novo mutation related Verheij syndrome[J]. Chinese Journal of Child Health Care. 2023, 31(1): 113-116 https://doi.org/10.11852/zgetbjzz2022-0356
中图分类号: R725.9   

参考文献

[1] Verheij JB, de Munnik SA, Dijkhuizen T, et al. An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions[J]. Eur J Med Genet, 2009,52(5):353-357.
[2] Dauber A, Golzio C, Guenot C, et al. SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant[J]. Am J Hum Genet, 2013,93(5):798-811.
[3] Chehadeh SE, Kerstjens-Frederikse WS, Thevenon J, et al. Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature[J]. Eur J Hum Genet, 2016,25(1):43-51.
[4] Santos-Simarro F, Vallespin E, Del PA, et al. Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants[J]. Clin Genet, 2017, 92(3):350-351.
[5] Low KJ, Ansari M, Abou JR, et al.PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features[J]. Eur J Hum Genet, 2017, 25(5):552-559.
[6] Zhao JJ, Halvardson J, Zander CS, et al. Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability[J]. Am J Med Genet B Neuropsychiatr Genet, 2018,177(1):10-20.
[7] Graziano C, Gusson E, Severi G, et al. A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature[J]. Ophthalmic Genet, 2017, 38(6):590-592.
[8] 梁雁,叶娟,魏虹,等. PUF60基因变异致Verheij综合征一例的临床及分子遗传学分析并文献复习[J]. 中华儿科杂志, 2018,56(8):592-596.
Liang Y, Ye J,Wei H, et al. Clinical and genetic analysis of Verheij syndrome caused by PUF60 de novo mutation in a Chinese boy and literature review[J]. Chin J Pediatr,2018,56(8):592-596.
[9] Moccia A, Srivastava A, Skidmore JM, et al. Genetic analysis of CHARGE syndrome identifies overlapping molecular biology[J]. Genet Med, 2018, 20(9):1022-1029.
[10] Xu Q, Li CY, Wang Y, et al. Role of PUF60 gene in Verheij syndrome:A case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature[J]. BMC Med Genomics, 2018, 11(1):92.
[11] Abdin D, Rump A, Tzschach A, et al.PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome[J]. Eur J Med Genet, 2019, 62(12):103587.
[12] Alkhunaizi E, Braverman N. Clnical characterization of a PUF60 variant in a patient with Dubowitz-like syndrome[J]. Am J Med Genet A, 2019, 179(1):130-133.
[13] Yamada M, Uehara T, Suzuki H,et al. Protein elongation variant of PUF60: Milder phenotypic end of the Verheij syndrome[J]. Am J Med Genet A, 2020,182(11):2709-2714.
[14] 李文颖. PUF60 基因变异致 Verheij 综合征一例并文献复习[J]. 临床医学进展, 2021, 11(3):1026-1032
Li WY. PUF60 gene mutation caused Verheij syndrome in a case and literature review[J].Adv Clin Med, 2021, 11(3):1026-1032.
[15] Kralovicova J, Sevcikova I, Stejskalova E, et al.PUF60-activated exons uncover altered 3′ splice-site selection by germline missense mutations in a single RRM[J]. Nucleic Acids Res, 2018, 46(12):6166-6187.

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