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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]

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Last update

21/6/2017

Phenotype: Brittle cornea syndrome

OMIM: 229200
Inheritance: Autosomal recessive
Classification: Congenital malformations, deformations and chromosomal abnormalities

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

ZNF469 || c.5943delA

Gene/Locus:	ZNF469
Dna Change:	c.5943delA
Protein Change:	p.G1983AfsX16
Mutation Type:	Deletion
Mutation Effect:	Frameshift
Location:	p.Gly1983AlafsX16
Transcript:	NM_001127464.1

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Tunisia	Jews	NA	5 patients / 4 families	NA	Abu A et al., 2008Abu A, Frydman M, Marek D, Pras E, Nir U, Reznik-Wolf H, Pras E, . Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome.. Am. J. Hum. Genet.. 2008; 82(5):1217-22

References

Abu A, Frydman M, Marek D, Pras E, Nir U, Reznik-Wolf H, Pras E, Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome.Am. J. Hum. Genet.. 2008; 82(5):1217-22

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Brittle cornea syndrome

References