Molecular analysis of Italian patients with congenital glaucoma

Giuffrè, Italo

doi:10.3109/13816810.2011.596891

Cited by 4 publications

(1 citation statement)

References 23 publications

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“…The second missense variant identified in our patient (p.F440L) is a very rare known pathogenic CYP1B1 variant. It has been reported before in in the heterozygous state in two unrelated Italian patients (Giuffre et al, 2007;Giuffre, 2011). The p.F440L changed the phenylalanine; an aromatic amino acid into leucine; an aliphatic amino acid, hence recording score of pathogenicity reaching 1 according to the polyphen-2 models.…”

Section: Discussionmentioning

confidence: 67%

A novel missense variant in CYP1B1 in an Egyptian patient with Primary Congenital Glaucoma

Elkhouly

Amer²,

Ismail³

et al. 2022

Middle East Journal of Medical Genetics

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Background: Primary Congenital Glaucoma (PCG) is a critical disease that can lead to blindness if left untreated. It is considered the most common type among pediatric glaucoma cases. Mutations in CYP1B1 gene are the predominant cause for the disease in most cases especially in the Middle East and North Africa regions where high consanguinity rates are reported. Purpose: Reporting a new PCG case from Egypt harboring a novel variant in CYP1B1. Patients and Methods:The patient underwent a full clinical examination, reporting visible symptoms, and measuring both eyes' IOP and corneal diameter. Genetic testing of CYP1B1 was performed using Sanger sequencing. Results: The patient was found to carry compound heterozygous missense variants: c.1310C>G (p.P437R) and c.1320T>G (p.F440L). Of them, the c.1310C>G (p.P437R) was not reported before. Conclusions: We detected a new variant in CYP1B1 expanding the mutational spectrum of this rare disorder. Further, identifying an additional case with biallelic CYP1B1 variants strongly supports the critical role this gene possesses to PCG phenotype.

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Section: Discussionmentioning

confidence: 67%

A novel missense variant in CYP1B1 in an Egyptian patient with Primary Congenital Glaucoma

Elkhouly

Amer²,

Ismail³

et al. 2022

Middle East Journal of Medical Genetics

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CYP1B1, MYOC, and LTBP2 Mutations in Primary Congenital Glaucoma Patients in the United States

Lim

Tran-Viet

Yanovitch

et al. 2013

American Journal of Ophthalmology

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PURPOSE To screen primary congenital glaucoma patients in the United States for sequence variants within the CYP1B1, LTBP2, and MYOC genes using Sanger and whole exome sequencing. DESIGN Retrospective case-control study. METHODS Fifty-seven primary congenital glaucoma patients (47 families), 71 unaffected family members of the primary congenital glaucoma probands, and 101 healthy unrelated individuals were recruited from a single institution. Sanger sequencing of the primary congenital glaucoma gene, CYP1B1, was performed on 47 proband deoxyribonucleic acid samples. Simultaneously, whole exome sequencing was conducted on 3 families, each including more than 1 affected individual. Concurrently, 33 of 47 primary congenital glaucoma probands with extended family deoxyribonucleic acid samples were screened for LTBP2 and MYOC gene mutations. Exome-sequenced variations were validated by additional Sanger sequencing to confirm segregation of filtered disease-causing single nucleotide variations. RESULTS Seven primary congenital glaucoma families (14.9%) manifested disease phenotypes attributable to CYP1B1 mutations. One primary congenital glaucoma family possessed homozygous mutant alleles, whereas 6 families carried compound heterozygous mutations. Five novel combinations of compound heterozygous mutations were identified, of which 2 combinations were found with whole exome sequencing. No disease-causing mutations withinthe LTBP2and MYOCgenes were discovered. CONCLUSIONS This study analyzed CYP1B1, LTBP2, and MYOC mutations in a cohort of primary congenital glaucoma patients from the United States, applying whole exome sequencing as a complementary tool to Sanger sequencing. Whole exome sequencing, coupled with Sanger sequencing, may identify novel genes in primary congenital glaucoma patients who have no mutations in known primary congenital glaucoma genes.

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