Chromosome 1q deletion and congenital glaucoma

Pediatrics International

Volumn 47, Issue 4, 2005, Pages 477-479

  Okamoto, Nobuhiko ^a   Hatsukawa, Yoshikazu ^a   Shiraishi, June ^a   Harada, Naoki ^b,c,d   Matsumoto, Naomichi ^d,e  

^a RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^b NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

^c Kyushu Medical Science Nagasaki Laboratory   (Japan)

^d JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^e YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Antithrombin III; Congenital glaucoma; Gain of function; Haploinsufficiency; Interstitial 1q deletion syndrome; MYOC gene

Indexed keywords

ANAMNESIS; ANOREXIA; ARTICLE; BIRTH WEIGHT; BUPHTHALMOS; CASE REPORT; CHILD DEVELOPMENT; CHROMOSOME 1Q; CHROMOSOME DELETION; CONGENITAL GLAUCOMA; ELECTROENCEPHALOGRAM; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GESTATIONAL AGE; HUMAN; INTRAOCULAR PRESSURE; KARYOTYPE 46,XX; LABORATORY TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; TRABECULECTOMY; VISUAL ACUITY;

CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; CYTOSKELETAL PROTEINS; EYE PROTEINS; FEMALE; GLAUCOMA; GLYCOPROTEINS; HUMANS; IN SITU HYBRIDIZATION;

EID: 23844537635     PISSN: 13288067     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1442-200x.2005.02097.x     Document Type: Article

References (9)

1. Pallotta R, Dalpra L, Miozzo M, Ehresmann T, Fusilli P. A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency. Am. J. Med. Genet. 2001; 104: 282-6.
2. Stone EM, Fingert JH, Alward WLM et al. Identification of a gene that causes primary open angle glaucoma. Science 1997; 275: 668-70.
3. Takano T, Yamanouchi Y, Mori Y et al. Interstitial deletion of chromosome 1q [del (1) (q24q25.3)] identified by fluorescence in situ hybridization and gene dosage analysis of apolipoprotein A-II, coagulation factor V, and antithrombin III. Am. J. Med. Genet. 1997; 68: 207-10.
4. Kubota R, Noda S, Wang Y et al. A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping. Genomics 1997; 41: 360-9.
5. Jacobson N, Andrews M, Shepard AR et al. Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor. Hum. Mol. Genet. 2001; 15: 117-25.
6. Fingert JH, Stone EM, Sheffield VC, Alward WL. Myocilin glaucoma. Surv. Ophthalmol. 2002; 47: 547-61.
7. Bruttini M, Longo I, Frezzotti P et al. Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma. Arch. Ophthalmol. 2003; 121: 1034-8.
8. Wiggs JL, Vollrath D. Molecular and clinical evaluation of a patient hemizygous for TIGR/MYOC. Arch. Ophthalmol. 2001; 119: 1674-8.
9. Kim BS, Savinova OV, Reedy MV et al. Targeted disruption of the myocilin gene (Myoc) suggests that human glaucoma-causing mutations are gain of function. Mol. Cell. Biol. 2001; 21: 7707-13.