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眼脑肾综合征一家系调查及OCRL基因突变分析 被引量：6

Investigation and OCRL mutation analysis of a family with oculocerebrorenal syndrome of Lowe
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摘要 眼脑肾综合征是一种X连锁隐性遗传病。该研究对一个眼脑肾综合征家系进行病史调查,并应用DNA直接测序技术对致病候选基因OCRL进行分析。在家系患者OCRL基因第15号外显子发现了1736号碱基A/G突变,导致该基因氨基酸第507号由组氨酸(H)变为精氨酸(R),即发生了OCRL基因H507R错义突变。患者母亲为X染色体突变基因杂合子携带者。该研究发现的OCRL基因H507R突变在国内属首次报道。 Abstract： Oculocerebrorenal syndrome of Lowe （OCRL） is an X-linked recessive disorder. This study investigated the history of a Chinese family with OCRL and used direct DNA sequencing to screen all exons of OCRL gene for mutations. A missense mutation （1736 A---}G） in exon 15 was revealed, which resulted in the change of His （H） 507 to Arg （R）. The patient＇s mother was the carrier of the heterozygous mutation in X-chromosome. To our knowledge, H507R mutation in OCRL gene has not been reported in Chinese people.
作者 史瑞明 卞旭华 李立敏 刘小红
机构地区 西安交通大学第一附属医院儿科
出处 《中国当代儿科杂志》 CAS CSCD 北大核心 2014年第4期366-369,共4页 Chinese Journal of Contemporary Pediatrics
关键词 眼脑肾综合征 基因 突变 儿童 Oculocerebrorenal syndrome of Lowe Gene Mutation Child
分类号 R725.9 [医药卫生—儿科]
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参考文献10

  • 1Addis M, Meloni C, Congiu R, et al. A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome [J]. Eur J Med Genet, 2007, 50(1): 79-84.
  • 2Ruellas AC, Pithon MM, Oliveira DD, et al. Lowe syndrome: literature review and case report [J]. J Orthod, 2008, 35(3): 156- 160.
  • 3Hou X, Hagemann N, Schoebel S, et al. A structural basis for Lowe syndrome caused by mutations in the Rab-binding domainof OCRL1 [J]. EMBO J, 2011, 30(8): 1659-1670.
  • 4Roschinger W, Muntau AC, Rudolph G, et al. Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination [J]. Mol Genet Metab, 2000, 69(3): 213-222.
  • 5Tasic V, Lozanovski V J, Korneti P, et al. Clinical and laboratory features of Macedonian children with OCRL mutations [J]. Pediatr Nephrol, 2011, 26(4): 557-562.
  • 6Pirruccello M, De Camilli P. Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL [J]. Trends Biochem Sci, 2012, 37(4):134-143.
  • 7Luo N, West CC, Murga-Zamalloa CA, et al. OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome[J]. Hum Mol Genet, 2012,21(15): 3333-3344.
  • 8Maia ML, do Val ML, Genzani CP, et al. Lowe syndrome: report of five cases [J]. J Bras Nefrol, 2010, 32(2): 216-222.
  • 9Satre V, Monnier N, Berthoin F, et al. Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene [J]. Am J Hum Genet, 1999, 65(1): 68-76.
  • 10Can M, Addis M, Congiu R, et al. A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome [J]. J Hum Genet, 2006, 51(11): 1030-1036.

同被引文献44

  • 1Yan Gao,Fang Jiang,Zhi-Ying Ou.Novel OCRL1 gene mutations in six Chinese families with Lowe syndrome[J].World Journal of Pediatrics,2016(4):484-488. 被引量：1
  • 2张永玲,李茹,景象一,汤雪薇,黎福成,廖灿.一例Lowe综合征患儿的临床及分子遗传学诊断[J].中华医学遗传学杂志,2019,36(6):613-615. 被引量：4
  • 3张晶,张俊青,代惠琴.眼-脑-肾综合征治疗的回顾性分析(附4例报告)[J].滨州医学院学报,2004,27(5):330-331. 被引量：2
  • 4洪婕,李秀珍,陶建平.眼-脑-肾综合征1例报道[J].国际医药卫生导报,2007,13(2):56-57. 被引量：2
  • 5Loi M. Lowe syndrome[J]. Orphanet J Rare Dis,2006,1:16.
  • 6Cau M, Addis M, Congiu R, et al. A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome [ J ]. J Hum Genet, 2006,51 ( 11 ) :1030-1036.
  • 7Hou XM, Hagemann N, Schoebel S, et al. A structural basis for Lowe syndrome caused by mutations in the Rab-binding domain of OCRL1 [J]. EMBO J,2011,30(8) :1659-1670.
  • 8Satre V,Monnier N, Berthoin F, et al. Characterization of a germline mosaicism in families with Lowe syndrome, and identifieation of sev- en novel mutations in the OCRLI gene[ J]. Am J Hum Genet, 1999, 65( 1 ) :68-76.
  • 9Tasic V, Lozanovski VL, Korneti P, et al. Clinical and laboratory fea- tures of Macedonian children with OCRL mutations J 1. Pediatr Neph- ro1,2011,26 ( 4 ) :557-562.
  • 10Ruellas AC, Pithon MM, Oliveira DD, et al. Lowe syndrome : litera- ture review and case report [ J ]. J Orthod ,2008,35 ( 3 ) : 156 -60.

引证文献6

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中国当代儿科杂志
2014年 第4期

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