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Man Hu, huaizhou wang, Li Li, Ningli Wang; Mutations of CYP1B1 and other candidate genes in Chinese patients with primary congenital glaucoma. Invest. Ophthalmol. Vis. Sci. 2018;59(9):5147.
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To screen primary congenital glaucoma patients in North China for sequence variants within the CYP1B1 genes and to identify novel genes using whole exome sequencing.
109 primary congenital glaucoma patients (99 families), 173 unaffected family members of the primary congenital glaucoma probands and 100 healthy unrelated individuals were recruited from Beijing Tongren Eye center. Sanger sequencing of the primary congenital glaucoma gene, CYP1B1, was performed on 99 probands deoxyribonucleic acid samples. Simultaneously, whole exome sequencing was conducted on 5 families demonstrating direct parent-to-child transmission of the disease looking for novel shared heterozygous variants. Exome-sequenced variations were validated by additional Sanger sequencing to confirm segregation of filtered disease-causing single nucleotide variations.
Eleven primary congenital glaucoma families (11.1%) manifested disease phenotypes attributable to CYP1B1 mutations. Four families possessed homozygous mutant alleles, whereas 7 families carried compound heterozygous mutations. Among the families demonstrating direct parent-to-child transmission, two heterozygous missense (F107L and D110Y) were observed in FOXC1 in one family. One heterozygous missense (V820G) was seen in WDR36 in one family that were also heterozygous for the CYP1B1 allele (M372T). The entire gene of TEK was observed loss of heterozygous in one family.
This study analyzed CYP1B1 mutations in a cohort of primary congenital glaucoma patients from North China. Whole exome sequencing may identify novel genes in primary congenital glaucoma patients in non-autosomal recessive families.
This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.
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