Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis

Journal of Pediatrics

Volumn 136, Issue 6, 2000, Pages 828-831

  Betz, Regina ^a,b,c   Rensing, Cornelia ^a,b,c   Otto, Edgar ^a,b,c   Mincheva, Antoaneta ^a,b,c   Zebnder, Daniel ^a,b,c   Lichter, Peter ^a,b,c   Hildebrandt, Friedhelm ^a,b,c  

^a UNIVERSITY OF FREIBURG   (Germany)

^b GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^c KANTONSSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; APRAXIA; ARTICLE; CHROMOSOME 2Q; EYE MOVEMENT DISORDER; FAMILY STUDY; GENE DELETION; HETEROZYGOSITY; HUMAN; MALE; MOLECULAR GENETICS; NEPHRONOPHTHISIS; POINT MUTATION; PRIORITY JOURNAL;

EID: 0034089698     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(00)01001-5     Document Type: Article

References (16)

1. 1. Cogan DG. A type of congenital ocular motor apraxia presenting jerky head movements. Trans Am Acad Ophthalmol Otolaryngol 1952;56:853-62.
2. 2. Cogan DG. Heredity of congenital ocular motor apraxia. Trans Am Acad Ophthalmol Otolaryngol 1972;76: 60-3.
3. 3. Orrison WW, Robertson WC Jr. Congenital ocular motor apraxia: a possible disconnection syndrome. Arch Neurol 1979;36:29-31.
4. 4. Vassella F, Lutschg J, Mumenthaler M. Cogan's congenital ocular motor apraxia in two successive generations. Dev Med Child Neurol 1972;14:788-96.
5. 5. Sargent MA, Poskitt KJ, Jan JE. Congenital ocular motor apraxia: imaging findings. Am J Neuroradiol 1997;18:1915-22.
6. 6. Hildebrandt F. Juvenile nephronophthisis. In: Barrat TM, Avner ED, Harmon WE, editors. Pediatric nephrology. Baltimore: Lippincott Williams & Wilkins: 1999. p. 453-8.
7. 7. Hildebrandt F, Otto E, Rensing C, Nothwang HG, Vollmer M, Adolphs J, et al. A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. Nat Genet 1997;17:149-53.
8. 8. Konrad M, Saunier S, Heidet L, Silbermann F, Benessy F, Calado J, et al. Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. Hum Mol Genet 1996;5:367-71.
9. 9. Saunier S, Morin G, Calado J, Benessy F, Silbermann F, Antignac C. Large deletions of the NPH1 region in Cogan syndrome (CS) associated with familial juvenile nephronophthisis [abstract]. Am J Hum Genet 1997;61: A346.
10. 10. Senior B, Friedmann AI, Braudo JL. Juvenile familial nephropathy with tapetoretinal degeneration: a new oculorenal dystrophy. Am J Ophthalmol 1961;52:625-33.
11. 11. Saraiva JM, Baraitser M. Joubert syndrome: a review. Am J Med Genet 1992;43:726-31.
12. 12. Maniatis T, Fritsch EF, Sambrook J. Molecular cloning. A laboratory manual. 2nd ed. Cold Spring Harbor (NY): Cold Spring Harbor Laboratory; 1987.
13. 13. Nothwang HG, Stubanus M, Adolphs J, Hanusch H, Vossmerbäumer U, Denich D, et al. Construction of a gene map of the nephronophthisis type I (NPH1) region on human chromosome 2q12. Genomics 1998;47:276-85.
14. 14. Hildebrandt F, Strahm B, Nothwang HG, Gretz N, Schnieders B, Singh-Sawhney I, et al. Molecular genetic identification of families with juvenile nephronophthisis type I: rate of progression to renal failure. Kidney Int 1997;51:261-9.
15. 15. Lichter P, Tang CJ, Call K, Hermanson G, Evans GA, Housman D, et al. High resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones. Science 1990; 247:64-9.
16. 16. Ledbetter DH, Ballabio A. Molecular cytogenetics of contiguous gene syndromes: mechanisms and consequences of gene dosage imbalance. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The molecular basis of inherited disease. New York: McGraw-Hill; 1995. p. 811-39.