Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation

Ophthalmic Genetics

Volumn 33, Issue 4, 2012, Pages 257-259

  Khan, Arif O ^a,b   Aldahmesh, Mohammed A ^a   Alkuraya, Fowzan S ^a,c,d  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^c KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^d ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

UNCLASSIFIED DRUG; ZINC FINGER PROTEIN; ZINC FINGER PROTEIN 469;

ADULT; ASTIGMATISM; BLUNT TRAUMA; BRITTLE CORNEA SYNDROME; CASE REPORT; CONGENITAL GLAUCOMA; CORNEA DISEASE; EYE INJURY; EYE SURGERY; HOMOZYGOSITY; HUMAN; LETTER; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; OPHTHALMOSCOPY; PRIORITY JOURNAL; SAUDI ARABIA; SLIT LAMP; VISUAL IMPAIRMENT;

ADULT; BASE SEQUENCE; BLINDNESS; EHLERS-DANLOS SYNDROME; HUMANS; MALE; MUTATION; SEQUENCE DELETION; TRANSCRIPTION FACTORS;

EID: 84867631878     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2012.670362     Document Type: Letter

References (7)

1. Abu A, Frydman M, Marek D, et al. Deleterious mutations in the zinc-finger 469 gene cause brittle cornea syndrome. Am J Hum Genet 2008;82(5):1217-1222.
2. Christensen AE, Knappskog PM, Midtbo M, et al. Brittle cornea syndrome associated with a missense mutation in the zincfinger 469 gene. Invest Ophthalmol Vis Sci 2010;51(1):47-52.
3. Khan AO, Aldahmesh MA, Mohamed JN, et al. Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X). Arch Ophthalmol 2010;128(10):1376-1379.
4. Khan AO. Conditions that can be mistaken as early childhood glaucoma. Ophthalmic Genet 2011;32(3):129-137.
5. Beighton P, Solomon L, Soskolne CL. Articular mobility in an African population. Ann Rheum Dis 1973;32(5): 413-418.
6. Burkitt Wright EM, Spencer HL, Daly SB, et al. Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. Am J Hum Genet 2011;88(6):767-777.
7. Aldahmesh MA, Mohamed JY, Alkuraya FS. A novel mutation in PRDM5 in brittle cornea syndrome. Clin Genet 2012; 81(2):198-199.