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.
关键词
眼脑肾综合征 /
基因 /
突变 /
儿童
Key words
Oculocerebrorenal syndrome of Lowe /
Gene /
Mutation /
Child
{{custom_sec.title}}
{{custom_sec.title}}
{{custom_sec.content}}
参考文献
[1] Addis 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.
[2] Ruellas AC, Pithon MM, Oliveira DD, et al. Lowe syndrome: literature review and case report[J]. J Orthod, 2008, 35(3): 156-160.
[3] Hou X, 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.
[4] Roschinger 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.
[5] Tasic V, Lozanovski VJ, Korneti P, et al. Clinical and laboratory features of Macedonian children with OCRL mutations[J]. Pediatr Nephrol, 2011, 26(4): 557-562.
[6] Pirruccello M, De Camilli P. Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL[J]. Trends Biochem Sci, 2012, 37(4):134-143.
[7] Luo 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.
[8] Maia ML, do Val ML, Genzani CP, et al. Lowe syndrome: report of five cases[J]. J Bras Nefrol, 2010, 32(2): 216-222.
[9] Satre 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.
[10] Cau 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.
PDF(1542 KB)
