Literature DB >> 30089822

Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card.

Cynthia Yu-Wai-Man1,2, Gavin Arno3,4, John Brookes4,5, Julian Garcia-Feijoo6, Peng Tee Khaw3,4, Mariya Moosajee3,4,5.   

Abstract

1. NAME OF THE DISEASE (SYNONYMS): Primary congenital glaucoma (PCG). Glaucoma, congenital (GLC). 2. OMIM# OF THE DISEASE: 231300- GLC3A. 600975- GLC3B. 613085- GLC3C. 613086- GLC3D. 617272- GLC3E. 3. NAME OF THE ANALYSED GENES OR DNA/CHROMOSOME SEGMENTS: CYP1B1. LTBP2. MYOC. FOXC1. TEK. 4. OMIM# OF THE GENE(S): CYP1B1 MIM# 601771. LTBP2 MIM# 602091. MYOC MIM# 601652. FOXC1 MIM# 601090. TEK MIM# 600221. Review of the analytical and clinical validity, as well as of the clinical utility of DNA-based testing for variants in the CYP1B1, LTBP2 and MYOC gene(s) in ⊠ diagnostic, ⊠ predictive and ⊠ prenatal settings and for ⊠ risk assessment in relatives.

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Year:  2018        PMID： 30089822      PMCID： PMC6189180          DOI： 10.1038/s41431-018-0227-y

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


  30 in total

1.  Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.

Authors:  B A Bejjani; R A Lewis; K F Tomey; K L Anderson; D K Dueker; M Jabak; W F Astle; B Otterud; M Leppert; J R Lupski
Journal:  Am J Hum Genet       Date:  1998-02       Impact factor: 11.025

2.  Primary congenital glaucoma: twenty years experience.

Authors:  F G McGinnity; A B Page; J H Bryars
Journal:  Ir J Med Sci       Date:  1987-12       Impact factor: 1.568

3.  Primary congenital glaucoma--a survey.

Authors:  J D Morin; S Merin; R W Sheppard
Journal:  Can J Ophthalmol       Date:  1974-01       Impact factor: 1.882

4.  Observations on the development of the anterior chamber angle with reference to the pathogenesis of congenital glaucomas.

Authors:  C Kupfer; M I Kaiser-Kupfer
Journal:  Am J Ophthalmol       Date:  1979-09       Impact factor: 5.258

5.  Causes of blindness and severe visual impairment in children in Chile.

Authors:  C E Gilbert; R Canovas; R Kocksch de Canovas; A Foster
Journal:  Dev Med Child Neurol       Date:  1994-04       Impact factor: 5.449

6.  Population genetical aspects of primary congenital glaucoma. I. Incidence, prevalence, gene frequency, and age of onset.

Authors:  A Gencik; A Gencikova; V Ferák
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

7.  Null mutations in LTBP2 cause primary congenital glaucoma.

Authors:  Manir Ali; Martin McKibbin; Adam Booth; David A Parry; Payal Jain; S Amer Riazuddin; J Fielding Hejtmancik; Shaheen N Khan; Sabika Firasat; Mike Shires; David F Gilmour; Katherine Towns; Anna-Louise Murphy; Dimitar Azmanov; Ivailo Tournev; Sylvia Cherninkova; Hussain Jafri; Yasmin Raashid; Carmel Toomes; Jamie Craig; David A Mackey; Luba Kalaydjieva; Sheikh Riazuddin; Chris F Inglehearn
Journal:  Am J Hum Genet       Date:  2009-04-09       Impact factor: 11.025

8.  Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.

Authors:  Khaled K Abu-Amero; Essam A Osman; Ahmed Mousa; Joshua Wheeler; Benjamin Whigham; R Rand Allingham; Michael A Hauser; Saleh A Al-Obeidan
Journal:  Mol Vis       Date:  2011-11-12       Impact factor: 2.367

9.  CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma.

Authors:  Emmanuelle Souzeau; Melanie Hayes; Jonathan B Ruddle; James E Elder; Sandra E Staffieri; Lisa S Kearns; David A Mackey; Tiger Zhou; Bronwyn Ridge; Kathryn P Burdon; Andrew Dubowsky; Jamie E Craig
Journal:  Mol Vis       Date:  2015-02-11       Impact factor: 2.367

10.  Epidemiology and characteristics of childhood glaucoma: results from the Dallas Glaucoma Registry.

Authors:  Derrick S Fung; M Allison Roensch; Karanjit S Kooner; H Dwight Cavanagh; Jess T Whitson
Journal:  Clin Ophthalmol       Date:  2013-08-28
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  3 in total

1.  Exome-based mutation screening in South African children with primary congenital glaucoma.

Authors:  Nadia Carstens; Saadiah Goolam; Michaella Hulley; Jean-Tristan Brandenburg; Michele Ramsay; Susan Eileen Isabella Williams
Journal:  Eye (Lond)       Date:  2022-01-29       Impact factor: 4.456

2.  Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma.

Authors:  Mouna Hadrami; Crystel Bonnet; Christina Zeitz; Fatimetou Veten; Med Biya; Cheikh T Hamed; Christel Condroyer; Panfeng Wang; Med Mahmoud Sidi; Sidi Cheikh; Qingjiong Zhang; Isabelle Audo; Christine Petit; Ahmed Houmeida
Journal:  Mol Vis       Date:  2019-07-13       Impact factor: 2.367

3.  Long-term outcomes in Primary congenital glaucoma, aniridia and anterior segment dysgenesis.

Authors:  Tejal Magan; Alexander Tanner; Julia Fajardo-Sanchez; Kin Sheng Lim; Saurabh Goyal; Ian Rodrigues; Luis Amaya; Sameer Trikha; Avinash Kulkarni; Christopher Hammond; Gerassimos Lascaratos; Cynthia Yu-Wai-Man
Journal:  Eur J Ophthalmol       Date:  2022-01-10       Impact factor: 1.922
  3 in total

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