Identification of two novel mutations in the OCRL1 gene in Japanese families with Lowe syndrome

Clinical Genetics

Volumn 54, Issue 3, 1998, Pages 199-202

  Kubota, Takeo ^a   Sakurai, Akihiro ^a   Arakawa, Kazuo ^b   Shimazu, Mitsunobu ^c   Wakui, Keiko ^a   Furihata, Kenichi ^a   Fukushima, Yoshimitsu ^a  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Suzaka Hospital   (Japan)

^c Mitsubishi Chemistry   (Japan)

Author keywords

Japanese families; Lowe syndrome; Missense mutation; Nonsense mutation; OCRL1 gene; ocrl1 protein

Indexed keywords

ARGININE; GLUTAMINE; SERINE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CODON; DNA SEQUENCE; EXON; FAMILY STUDY; GENETIC COUNSELING; HUMAN; JAPAN; LOWE SYNDROME; MALE; MISSENSE MUTATION; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 0031720162     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1998.tb04284.x     Document Type: Article

References (12)

1. Lowe CU, Terrey M, MacLachan EA. Organic aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation: a clinical entity. Am J Dis Child 1952: 83: 164-184.
2. Charnas LR, Nussbaum RL. The oculocerebrorenal syndrome of Lowe (Lowe syndrome). In: Scriver CR et al., eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edition. New York: McGraw-Hill, 1995: 3705-3716.
3. Reilly DS, Lewis RA, Ledbctter DH, Nussbaum RL. Tightly linked flanking markers for the Lowe Oculocerebrorenal syndrome, with application to carrier assessment. Am J Hum Genet 1988: 42: 748-755.
4. Atree O, Olivos IM, Okabe I, Bailey LC, Nelson DL, Lewis RA, McInnes RR, Nussbaum RL. The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature 1992: 358: 239-242.
5. Leahey A-M, Charnas LR, Nussbaum RL. Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. Hum Mol Genet 1993: 2: 461-463.
6. Lin T, Orrison BM, Leahey A-M, Suchy SF, Bernard DJ, Lewis RA, Nussbaum RL. Spectrum of mutations in the OCRLI gene in the Lowe oculocerebrorenal syndrome. Am J Hum Genet 1997: 60: 1384-1388.
7. Bijvoet SM, Hayden MR. Mismatch PCR: a rapid method to screen for the Pro207 → Leu mutation in the lipoprotein lipase (LPL) gene. Hum Mol Genet 1992: 1: 541.
8. Olivos-Gender IM, Jänne PA, Nussbaum RL et al. The oculocerebrorenal syndrome gene product is a 105-kDa protein localized to the Golgi Complex. Am J Hum Genet 1995: 57: 817-825.
9. Zhang X, Jefferson AB, Auethavekiat V, Majerus PW. The protein deficient in Lowe syndrome in a phosphatidylinositol 4,5-bisphosphate 5-phosphatase. Proc Natl Acad Sci USA 1995: 95: 4853-4856.
10. Suchy SF, Olivos-Glander IM, Nussbaum RL. Lowe syndrome, a deficiency of a phosphatidyl inositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus. Hum Mol Genet 1995: 4: 2245-2250.
11. Jefferson AB, Majerus PW. Mutation of the conserved domains of two inositol polyphosphate 5-phophatases. Biochemistry 1996: 35: 7890-7894.
12. McPherson PS, Garcia EP, Slepnev VI, David C, Zhang X, Grabs D, Sossin WS, Bauerfeind R, Nemoto Y, Camilli PD. A pre-synaptic inositol-5-phosphatase. Nature 1996: 379: 353-357.