Novel Mutation of OCRL1 in Lowe Syndrome

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• 作者：Ting Liu (1)
  Zhihui Yue (1)
  Haiyan Wang (1) (2)
  Huajuan Tong (1)
  Liangzhong Sun (1)
  
  1. Department of Pediatrics ; The First Affiliated Hospital ; Sun Yat-sen University ; Guangzhou ; 510080 ; People鈥檚 Republic of China
  2. Department of Pediatrics ; Sun Yat-sen Memorial Hospital ; Sun Yat-sen University ; Guangzhou ; 510120 ; People鈥檚 Republic of China
  
• 关键词：OCRL1 ; Lowe syndrome ; Congenital cataracts ; Renal tubular acidosis
• 刊名：The Indian Journal of Pediatrics
• 出版年：2015
• 出版时间：January 2015
• 年：2015
• 卷：82
• 期：1
• 页码：89-92
• 全文大小：458 KB
• 参考文献：1. Loi M. Lowe syndrome. Orphanet J Rare Dis. 2006;1:16.
  2. Bockenhauer D, Bokenkamp A, van鈥檛 Hoff W, Levtchenko E, Kist-van Holthe JE, Tasic V, et al. Renal phenotype in Lowe syndrome: a selective proximal tubular dysfunction. Clin J Am Soc Nephrol. 2008;3:1430鈥?.
  3. Yue Z, Pei Y, Sun L, Huang W, Huang H, Hu B, et al. Clinical pictures and novel mutations of WT1-associated聽Denys-Drash syndrome in two Chinese children. Ren Fail. 2011;33:910鈥?.
  4. David BM, Alan SL. Transport of inorganic solutes: sodium, chloride, potassium, magnesium, calcium, and phosphate. In: Barry MB, editor. Brenner and Rector鈥檚 the Kidney. 8th ed. Philadelphia: Saunders Elsevier; 2007. p. 156鈥?00.
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  6. Lin T, Lewis RA, Nussbaum RL. Molecular confirmation of carriers for Lowe syndrome. Ophthalmology. 1999;106:119鈥?2.
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  8. Pirruccello M, De Camilli P. Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL. Trends Biochem Sci. 2012;37:134鈥?3.
  9. Hichri H, Rendu J, Monnier N, Coutton C, Dorseuil O, Poussou RV, et al. From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes. Hum Mutat. 2011;32:379鈥?8.
  10. Lin T, Orrison BM, Leahey AM, Suchy SF, Bernard DJ, Lewis RA, et al. Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. Am J Hum Genet. 1997;60:1384鈥?.
  
• 刊物主题：Pediatrics; Gynecology;
• 出版者：Springer India
• ISSN：0973-7693

文摘

Lowe syndrome is a rare, X-linked recessive genetic disease with multi-organ involvement. The pathogenic gene is OCRL1. The authors analyzed the OCRL1 mutation and summarized the clinical features of a Chinese child with Lowe syndrome. The patient is a 3 year 7 mo-old boy. He presented with hypotonia at birth and gradually presented with bilateral congenital cataracts, psychomotor retardation, hypophosphatemic rickets and renal tubular function disorder. Sequence analysis of OCRL1 revealed a novel insertion mutation, c.2367insA (p. Ala813X), in exon 22. This mutation was suspected to cause a premature stop codon of OCRL1 and truncation of the OCRL1 protein. His mother, who carried a heterozygous mutation, had no sign of abnormality.