title: Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis.
abstract: OBJECTIVE
  This study was designed to analyze two candidate genes, myocilin (MYOC) and cytochrome P450 1B1 (CYP1B1), in a Chinese pedigree of juvenile glaucoma with goniodysgenesis.
  
  
  METHODS
  In a three-generation family of juvenile glaucoma with goniodysgenesis (13 members), six of them were patients with glaucoma and the rest were asymptomatic. All members of the family underwent complete ophthalmologic examinations. Exons of MYOC and CYP1B1 were amplified by polymerase chain reaction, sequenced, and compared with a reference database.
  
  
  RESULTS
  Elevated intraocular pressure (IOP) and visual function impairment was found in all patients, and goniodysgenesis was noticed in five of them (nine eyes) with relatively transparent corneas. One MYOC heterozygous mutation, c.1109 C>T (P370L), in exon 3 was identified in all six patients but not in the asymptomatic family members. Two CYP1B1 single nucleotide polymorphisms (SNPs), g.3947 C>G (R48G) in exon 2 and 372-12 C>T in intron 1, were identified in all six patients and but not in the asymptomatic family members except the proband's grandmother. Three SNPs were identified, 730 + 35 A>G in intron 2 of MYOC and g.8131 G>C (V432L) and g.8184 T>C (D449D) in exon 3 of CYP1B1.
  
  
  CONCLUSIONS
  The presence of a P370L mutation of MYOC in all six glaucoma patients suggests a casual association between this mutation and juvenile glaucoma with goniodysgenesis. The possible role of SNPs of CYP1B1 in the pathogenesis of the disease remains to be elucidated.
authors: Ophthalmic Laboratories and Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, P. R. China.
authors: Xiaoming
authors: X
authors: Chen
authors: Naihong
authors: N
authors: Yan
authors: Hongmin
authors: H
authors: Yun
authors: Jingjing
authors: J
authors: Sun
authors: Man
authors: M
authors: Yu
authors: Jiumo
authors: J
authors: Zhou
authors: Guiqun
authors: G
authors: Cao
authors: Hongbo
authors: H
authors: Yin
authors: Mao
authors: M
authors: Li
authors: Xuyang
authors: X
authors: Liu
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001189:Aryl Hydrocarbon Hydroxylases; D044466:Asian People; D001483:Base Sequence; D002681:China; D003316:Corneal Diseases / Q000150:complications* / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D065633:Cytochrome P-450 CYP1B1; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005901:Glaucoma / Q000150:complications* / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D017422:Sequence Analysis, DNA; D000099179:Myocilin
chemical_list: D001189:Aryl Hydrocarbon Hydroxylases; D065633:Cytochrome P-450 CYP1B1; D003577:Cytochrome P-450 Enzyme System; D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin; C585496:CYP1B1 protein, human