MFMD

Search

Browse the database

By Disease
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]

By Gene
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

Last update

21/6/2017

Phenotype: Bietti crystalline corneoretinal dystrophy

OMIM: 210370
Inheritance: Autosomal recessive
Classification: Diseases of the eye and adnexa

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

CYP4V2 || c.332T>C

Gene/Locus:	CYP4V2
Dna Change:	c.332T>C
Protein Change:	p.Ile111Thr
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 3
Transcript:	NM_207352.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Lebanon	NA	NA	2 families/3 unrelated families	NA	Haddad NM et al., 2012Haddad NM, Waked N, Bejjani R, Khoueir Z, Chouery E, Corbani S, Mégarbané A, . Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: report on a novel mutation.. Mol. Vis.. 2012; 18(0):1182-8

References

Haddad NM, Waked N, Bejjani R, Khoueir Z, Chouery E, Corbani S, Mégarbané A, Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: report on a novel mutation.Mol. Vis.. 2012; 18(0):1182-8

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Bietti crystalline corneoretinal dystrophy

References