Phenotype: Glaucoma 1A, primary open angle


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

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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

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
FranceNANorthern France71 patients/ 71 patientsNABrézin 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

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
SpainNASoutheastNA3800 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

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
GreeceNANorthwestern15 patientsNAKitsos 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
GreeceNANANANAHewitt 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
MoroccoBerberNANANAHewitt 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