Mutations of the CYP1B1 gene in congenital anterior staphylomas

Ramzi Al Judaibi; Khaled K. Abu-Amero; Jose Morales; Sami Al Shahwan; Deepak P. Edward

doi:10.2147/OPTH.S53200

Mutations of the CYP1B1 gene in congenital anterior staphylomas

Ramzi Al Judaibi, Khaled K. Abu-Amero, Jose Morales, Sami Al Shahwan, Deepak P. Edward

School of Medicine

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Abstract

Purpose: Here, we present two patients with congenital anterior staphyloma, with mutations in the CYP1B1 gene. Methods: We reviewed the medical records, including the genetic analysis. Results: Two unrelated patients presented with congenital anterior staphylomas. Both patients showed mutations in the CYP1B1 gene. The first patient, the product of a consanguineous marriage, showed a homozygous misssense mutation g.3987G>A (p.G61E). The second patient had compound heterozygous misssense mutations [g.4160 G>T (p.A119S) and g.8131 C>G (p.L432V)]. Conclusion: CYP1B1 gene mutation may be associated with congenital anterior staphylomas.

Original language	English (US)
Pages (from-to)	445-448
Number of pages	4
Journal	Clinical Ophthalmology
Volume	8
DOIs	https://doi.org/10.2147/OPTH.S53200
State	Published - Feb 24 2014

Keywords

Congenital aphakia
Congenital glaucoma
Consanguinity
Mutation analysis

ASJC Scopus subject areas

Ophthalmology

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10.2147/OPTH.S53200

Cite this

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title = "Mutations of the CYP1B1 gene in congenital anterior staphylomas",

abstract = "Purpose: Here, we present two patients with congenital anterior staphyloma, with mutations in the CYP1B1 gene. Methods: We reviewed the medical records, including the genetic analysis. Results: Two unrelated patients presented with congenital anterior staphylomas. Both patients showed mutations in the CYP1B1 gene. The first patient, the product of a consanguineous marriage, showed a homozygous misssense mutation g.3987G>A (p.G61E). The second patient had compound heterozygous misssense mutations [g.4160 G>T (p.A119S) and g.8131 C>G (p.L432V)]. Conclusion: CYP1B1 gene mutation may be associated with congenital anterior staphylomas.",

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T1 - Mutations of the CYP1B1 gene in congenital anterior staphylomas

AU - Judaibi, Ramzi Al

AU - Abu-Amero, Khaled K.

AU - Morales, Jose

AU - Shahwan, Sami Al

AU - Edward, Deepak P.

PY - 2014/2/24

Y1 - 2014/2/24

N2 - Purpose: Here, we present two patients with congenital anterior staphyloma, with mutations in the CYP1B1 gene. Methods: We reviewed the medical records, including the genetic analysis. Results: Two unrelated patients presented with congenital anterior staphylomas. Both patients showed mutations in the CYP1B1 gene. The first patient, the product of a consanguineous marriage, showed a homozygous misssense mutation g.3987G>A (p.G61E). The second patient had compound heterozygous misssense mutations [g.4160 G>T (p.A119S) and g.8131 C>G (p.L432V)]. Conclusion: CYP1B1 gene mutation may be associated with congenital anterior staphylomas.

AB - Purpose: Here, we present two patients with congenital anterior staphyloma, with mutations in the CYP1B1 gene. Methods: We reviewed the medical records, including the genetic analysis. Results: Two unrelated patients presented with congenital anterior staphylomas. Both patients showed mutations in the CYP1B1 gene. The first patient, the product of a consanguineous marriage, showed a homozygous misssense mutation g.3987G>A (p.G61E). The second patient had compound heterozygous misssense mutations [g.4160 G>T (p.A119S) and g.8131 C>G (p.L432V)]. Conclusion: CYP1B1 gene mutation may be associated with congenital anterior staphylomas.

KW - Congenital aphakia

KW - Congenital glaucoma

KW - Consanguinity

KW - Mutation analysis

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Mutations of the CYP1B1 gene in congenital anterior staphylomas

Abstract

Keywords

ASJC Scopus subject areas

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