Age-dependent penetrance and mapping of the locus for juvenile and early-onset open-angle glaucoma on chromosome 1q (GLC1A) in a French family

Meyer, Anne; Béchetoille, A; Valtot, F; Dinechin, S. Dupont de; Adam, Marie F.; Belmouden, Ahmed; Brézin, Antoine P.; Gomez, Lucienne; Bach, Jean‐François; Garchon, H J

doi:10.1007/s004390050260

Cited by 25 publications

(15 citation statements)

References 8 publications

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“…'6 17 These findings indicated that the range of phenotypes determined by the GLClA chromosomal region could be broader than initially thought. However, GLC1A was also probably excluded in one family with middle age onset OAG,'8 and a second localisation (GLCIB) on proximal chromosome 2q was recently proposed.…”

mentioning

confidence: 84%

Genetic heterogeneity of primary open angle glaucoma and ocular hypertension: linkage to GLC1A associated with an increased risk of severe glaucomatous optic neuropathy.

Brézin

Béchetoille

Hamard

et al. 1997

Journal of Medical Genetics

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The GLC1A locus for autosomal dominant juvenile and middle age onset primary open angle glaucoma (OAG) has been mapped to chromosome lq21-q31. OAG, however, is a heterogeneous disease. We tested linkage of OAG and ocular hypertension (OHT), a major risk factor for OAG, to GLC1A in eight French families with multiple cases of juvenile and middle age onset OAG. There was strong evidence of genetic heterogeneity, four families being linked to GLC1A and two or three others being unlinked, depending on whether the complete OAG phenotype was analysed alone or jointly with OHT In initial linkage studies, disease onset consistently occurred before the age of 20.9 12-15 Subsequently, two large families were characterised, in which both juvenile OAG and middle age onset OAG were observed.'6 17 These findings indicated that the range of phenotypes determined by the GLClA chromosomal region could be broader than initially thought. However, GLC1A was also probably excluded in one family with middle age onset OAG,'8 and a second localisation (GLCIB) on proximal chromosome 2q was recently proposed.'9 Therefore, these results raised questions as to the role of the GLC1A locus in middle to late age onset OAG and OHT, which

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mentioning

confidence: 84%

Genetic heterogeneity of primary open angle glaucoma and ocular hypertension: linkage to GLC1A associated with an increased risk of severe glaucomatous optic neuropathy.

Brézin

Béchetoille

Hamard

et al. 1997

Journal of Medical Genetics

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“…Therefore, very likely, this patient, who was also born in Western France, had inherited the same mutation. (Sheffield et al, 1993;Meyer et al, 1996;Brezin et al, 1998). Identifying these subjects and screening their relatives for mutations should help to prevent irreversible glaucomatous lesions of optic nerves in carriers, since efficient therapies are already available.…”

Section: Allelic Associations With Myoc Mutations Denote Founding Effmentioning

confidence: 99%

Myocilin analysis by DHPLC in French POAG patients: Increased prevalence of Q368X mutation

et al. 2003

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Primary open-angle glaucoma (POAG) is a prevalent optic neuropathy with complex genetics. A small number of patients carry a mutation in the coding region of the myocilin (MYOC) gene. The nature and the frequency of these mutations, however, vary substantially, notably with the age at onset and the ethnic origin of the patients. Here, we showed that denaturing high performance liquid chromatography (DHPLC) is an appropriate method for screening carriers of MYOC mutations. We have applied the method to a group of 237 POAG patients and 108 control subjects from France. Mutations were found in 17 (7.5%) patients and in none of the controls. A single mutation, Q368X (c.1102C>T), accounted for the majority (12/17) of these mutations, corresponding to a frequency of 5% among POAG patients, the highest ever reported for this mutation. Furthermore, analysis of allelic associations at closely linked microsatellite markers indicated that most, if not all, patients inherited Q368X from a same ancestor. Five other patients carried four distinct mutations, including N480K (c.1440C>A) (2 cases), I499F (c.1495A>T), G367R (c.1099G>A) and T438I (c.1313C>T), which is reported here for the first time. Altogether, MYOC mutations in French patients were associated with a significantly increased intraocular pressure at diagnosis. In addition, the age at diagnosis of patients with a mutation other than Q368X was significantly younger than that of Q368X carriers or of patients with a normal MYOC. Based on these observations, a screening strategy of MYOC mutations in French POAG patients is briefly outlined.

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“…In addition to the differences in angle morphology, the age of onset of glaucoma varies from juvenile to adult onset in the families linked to 1q21-31 Sheffield et al 1993;Richards et al 1994;Wiggs et al 1994;Graff et al 1995;Morisette et al 1995;Meyer et al 1996). Hence, another explanation for the discrepant clin-133 Fig.…”

Section: Discussionmentioning

confidence: 99%

“…Dysgenesis of the iridocorneal angle has been reported in one ADJG family linked to the GLC1A locus on chromosome 1q21-31 (Graff et al 1995) but not in others Sheffield et al 1993;Richards et al 1994;Wiggs et al 1994Wiggs et al , 1995Morisette et al 1995;Meyer et al 1996). The adult-onset normal tension open-angle glaucoma family linked to chromosome 2cen-q13 was not reported to have any angle malformations (Stoilova et al 1996).…”

Section: Introductionmentioning

confidence: 99%

Fine mapping of the gene for autosomal dominant juvenile-onset glaucoma with iridogoniodysgenesis in 6p25-tel

Graff

Jerndal²,

Wadelius

1997

Human Genetics

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Glaucoma is a group of ocular disorders leading to reduced visual capabilities and sometimes blindness. The biochemical defect is unknown but it is shown that reduced drainage of the aqueous humour from the anterior chamber may lead to increased intraocular pressure and gradual atrophy of the optic neurons. Families with various forms of autosomal dominant (AD) glaucoma have been linked to 1q21-31, 2cen-q13, 4q25-27, and 13q14 and autosomal recessive congenital glaucoma have been localized to chromosome 1p36 and 2p21. Recently, a locus for AD iridogoniodysgenesis anomaly (IGDA) was mapped to chromosome 6p25. This study refines the localization of IGDA to an approximately 6-cM interval between D6S1600 and D6S1617/D6S1713 at 6p25-tel, based on recombinations in affected individuals with AD juvenile-onset glaucoma and concomitant iridogoniodysgenesis.

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Age-dependent penetrance and mapping of the locus for juvenile and early-onset open-angle glaucoma on chromosome 1q (GLC1A) in a French family

Cited by 25 publications

References 8 publications

Genetic heterogeneity of primary open angle glaucoma and ocular hypertension: linkage to GLC1A associated with an increased risk of severe glaucomatous optic neuropathy.

Genetic heterogeneity of primary open angle glaucoma and ocular hypertension: linkage to GLC1A associated with an increased risk of severe glaucomatous optic neuropathy.

Myocilin analysis by DHPLC in French POAG patients: Increased prevalence of Q368X mutation

Fine mapping of the gene for autosomal dominant juvenile-onset glaucoma with iridogoniodysgenesis in 6p25-tel

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