Primary congenital glaucoma in two siblings with different compound heterozygous CYP1B1 genotypes.

IF 1.2 4区 医学 Q4 GENETICS & HEREDITY
Ophthalmic Genetics Pub Date : 2024-08-01 Epub Date: 2024-03-07 DOI:10.1080/13816810.2024.2324044
Alexandra Ruiz Guijosa, Laura Morales Fernández, José María Martínez de la Casa, Julio Escribano, Julián García Feijoo
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引用次数: 0

Abstract

Objective: To describe the inheritance pattern and clinical variability of primary congenital glaucoma (PCG) in a family with two affected siblings.

Materials and methods: Two sisters diagnosed at birth with bilateral PCG, whose father had bilateral PCG and mother had bilateral microphthalmus, were subjected to a familial genetic study and ophthalmologic follow-up including intraocular pressure (IOP) measurement, and collection of biometric and cup-to-disc ratio data.

Results: The inheritance pattern was autosomal recessive in compound heterozygosis. The sisters were found to be carriers of three pathogenic allele variants of the CYP1B1 gene: c.317C>A (p.Ala106Asp) and c.1345delG (p.Asp449MetfsTer8) in one patient (10 years) and c.1345delG (p.Asp449MetfsTer8) and c.202_209delCAGGCGGC (p.Gln68Serfs153Ter) in her older sister (12 years). Surgical histories included: three goniotomies and two Ahmed valves in each eye, and two trabeculectomies and a pupilloplasty in the right eye in the 10-year old; and one goniotomy, trabeculectomy and three Ahmed valves in each eye in the older sister. Currently, both sisters have a controlled intraocular pressure of 18-20 mmHg in both eyes. The father is blind in both eyes and carries two variants c.317C>A (p.Ala106Asp) and c.202_209delCAGGCGGC (p.Gln68Serfs153Ter). The mother with a single variant c.1345delG (p.Asp440MetfsTer8) has a prosthetic right eye and microphthalmus left eye.

Conclusions: The sisters were found to show two different allelic CYP1B1 variants (compound heterozygosis) with different repercussions on the clinical severity of PCG. These findings highlight the importance of genetic screening of affected families.

两个具有不同复合杂合子 CYP1B1 基因型的兄弟姐妹患有原发性先天性青光眼。
摘要描述一个有两个患病兄弟姐妹的家族中原发性先天性青光眼(PCG)的遗传模式和临床变异性:对两姐妹进行家族遗传学研究和眼科随访,包括眼压(IOP)测量、生物计量学和杯盘比数据收集:结果:遗传模式为常染色体隐性复合杂合遗传。结果发现,姐妹俩都是 CYP1B1 基因三个致病等位基因变异的携带者:其中一名患者(10 岁)为 c.317C>A (p.Ala106Asp) 和 c.1345delG (p.Asp449MetfsTer8) 变异,姐姐(12 岁)为 c.1345delG (p.Asp449MetfsTer8) 和 c.202_209delCAGGCGGC (p.Gln68Serfs153Ter) 变异。手术史包括:10 岁的妹妹每只眼睛做了三次眼球切开术和两次艾哈迈德瓣膜手术,右眼做了两次小梁切除术和一次瞳孔成形术;姐姐每只眼睛做了一次眼球切开术、小梁切除术和三次艾哈迈德瓣膜手术。目前,姐妹俩的双眼眼压都控制在 18-20 毫米汞柱。父亲双眼失明,携带两个变异基因 c.317C>A(p.Ala106Asp)和 c.202_209delCAGGCGGC(p.Gln68Serfs153Ter)。母亲的单变异基因为 c.1345delG (p.Asp440MetfsTer8),右眼为义眼,左眼为小眼球:结论:姐妹俩的 CYP1B1 变异(复合杂合子)表现出两种不同的等位基因,对 PCG 的临床严重程度有不同的影响。这些发现凸显了对受影响家庭进行基因筛查的重要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Ophthalmic Genetics
Ophthalmic Genetics 医学-眼科学
CiteScore
2.40
自引率
8.30%
发文量
126
审稿时长
>12 weeks
期刊介绍: Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.
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