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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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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: Glaucoma 1A, primary open angle

OMIM: 137750
Inheritance: Autosomal dominant
Classification: Diseases of the eye and adnexa

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

MYOC || c.1440C>A

Gene/Locus:	MYOC
Dna Change:	c.1440C>A
Protein Change:	p.Asn480Lys
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	UTR 3 prime
Transcript:	NM_000261.1

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
France	NA	Northern France	71 patients/ 71 patients	NA	Brézin AP et al., 1998Brézin AP, Adam MF, Belmouden A, Lureau MA, Chaventré A, Copin B, Gomez L, De Dinechin SD, Berkani M, Valtot F, Rouland JF, Dascotte JC, Bach JF, Garchon HJ, . Founder effect in GLC1A-linked familial open-angle glaucoma in Northern France.. Am. J. Med. Genet.. 1998; 76(5):438-45

MYOC || c.1139A>C

Gene/Locus:	MYOC
Dna Change:	c.1139A>C
Protein Change:	p.Asp380Ala
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	UTR 3 prime
Transcript:	NM_000261.1

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Spain	NA	Southeast	NA	3800 years ago (190 generations with 20 years each generation)	Campos-Mollo E et al., 2007Campos-Mollo E, Sánchez-Sánchez F, López-Garrido MP, López-Sánchez E, López-Martínez F, Escribano J, . MYOC gene mutations in Spanish patients with autosomal dominant primary open-angle glaucoma: a founder effect in southeast Spain.. Mol. Vis.. 2007; 13(0):1666-73

MYOC || c.1130C>T

Gene/Locus:	MYOC
Dna Change:	c.1130C>T
Protein Change:	p.Thr377Met
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 3
Transcript:	NM_000261.1

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Greece	NA	Northwestern	15 patients	NA	Kitsos G et al., 2010Kitsos G, Petrou Z, Grigoriadou M, Samples JR, Hewitt AW, Kokotas H, Giannoulia-Karantana A, Mackey DA, Wirtz MK, Moschou M, Ioannidis JP, Petersen MB, . Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece.. Clin Ophthalmol. 2010; 4(0):171-8
Greece	NA	NA	NA	NA	Hewitt AW et al., 2007Hewitt AW, Samples JR, Allingham RR, Järvelä I, Kitsos G, Krishnadas SR, Richards JE, Lichter PR, Petersen MB, Sundaresan P, Wiggs JL, Mackey DA, Wirtz MK, . Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds.. Mol. Vis.. 2007; 13(0):487-92
Morocco	Berber	NA	NA	NA	Hewitt AW et al., 2007Hewitt AW, Samples JR, Allingham RR, Järvelä I, Kitsos G, Krishnadas SR, Richards JE, Lichter PR, Petersen MB, Sundaresan P, Wiggs JL, Mackey DA, Wirtz MK, . Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds.. Mol. Vis.. 2007; 13(0):487-92

References

Brézin AP, Adam MF, Belmouden A, Lureau MA, Chaventré A, Copin B, Gomez L, De Dinechin SD, Berkani M, Valtot F, Rouland JF, Dascotte JC, Bach JF, Garchon HJ, Founder effect in GLC1A-linked familial open-angle glaucoma in Northern France.Am. J. Med. Genet.. 1998; 76(5):438-45

Campos-Mollo E, Sánchez-Sánchez F, López-Garrido MP, López-Sánchez E, López-Martínez F, Escribano J, MYOC gene mutations in Spanish patients with autosomal dominant primary open-angle glaucoma: a founder effect in southeast Spain.Mol. Vis.. 2007; 13(0):1666-73

Hewitt AW, Samples JR, Allingham RR, Järvelä I, Kitsos G, Krishnadas SR, Richards JE, Lichter PR, Petersen MB, Sundaresan P, Wiggs JL, Mackey DA, Wirtz MK, Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds.Mol. Vis.. 2007; 13(0):487-92

Kitsos G, Petrou Z, Grigoriadou M, Samples JR, Hewitt AW, Kokotas H, Giannoulia-Karantana A, Mackey DA, Wirtz MK, Moschou M, Ioannidis JP, Petersen MB, Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece.Clin Ophthalmol. 2010; 4(0):171-8

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Glaucoma 1A, primary open angle

References