Molecular confirmation of carriers for Lowe syndrome

Ophthalmology

Volumn 106, Issue 1, 1999, Pages 119-122

  Lin, Ti ^a   Lewis, Richard Alan ^b   Nussbaum, Robert L ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

OCRL PROTEIN, HUMAN; PHOSPHATASE; PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; COHORT ANALYSIS; EYE FUNDUS; FEMALE; GENETIC LINKAGE; GENETICS; HETEROZYGOTE DETECTION; HUMAN; LOWE SYNDROME; MALE; MIDDLE AGED; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PRESCHOOL CHILD; SENSITIVITY AND SPECIFICITY; X CHROMOSOME;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; FUNDUS OCULI; HETEROZYGOTE DETECTION; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; MUTATION, MISSENSE; OCULOCEREBRORENAL SYNDROME; PEDIGREE; PHOSPHORIC MONOESTER HYDROLASES; PROTEINS; SENSITIVITY AND SPECIFICITY; X CHROMOSOME;

EID: 0032608436     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0161-6420(99)90012-X     Document Type: Article

References (9)

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;83:164-84.
2. Leahey AM, Charnas LR, Nussbaum RL. Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. Hum Mol Genet 1993;2:461-3.
3. Lin T, Orrison BM, Leahey AM, et al. Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. Am J Hum Genet 1997;60:1384-8.
4. Suchy SF, Olivos-Glander IM, Nussbaum RL. Lowe syndrome, a deficiency of phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus. Hum Mol Genet 1995; 4:2245-50.
5. Gardner RJ, Brown N. Lowe's syndrome: identification of carriers by lens examination. J Med Genet 1976;13:449-54.
6. Reilly DS, Lewis RA, Ledbetter DH, Nussbaum RL. Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment. Am J Hum Genet 1988;42:748-55.
7. Holmes GE, Tucker V. Oculo-cerebro-renal syndrome. A four generation family study and case reports of two living children. Clin Pediatr (Phila) 1972;11:119-24.
8. Tripathi RC, Cibis GW, Harris DJ, Tripathi B. Lowe's Syndrome. Birth Defects: Orig Art Ser 1982;18:629-44.
9. Cibis GW, Waeltermann JM, Whitcraft CT, et al. Lenticular opacities in carriers of Lowe's syndrome. Ophthalmology 1986;93:1041-5.