Novel LOXL3-associated stickler syndrome-like phenotype: a case report.

IF 1.2 4区医学 Q4 GENETICS & HEREDITY

Ophthalmic Genetics Pub Date : 2024-07-03 DOI:10.1080/13816810.2024.2369273

Adrianna E Klejnotowska, Megan Higgins, Shaheen P Shah

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引用次数: 0

Abstract

Purpose: To report the case of a young boy with early onset high myopia (eoHM), foveal hypoplasia and skeletal dysplasia due to a homozygous LOXL3 pathogenic variant. Atypically, this was from a paternal uniparental isodisomy (UPiD) of chromosome 2.

Clinical case: Four-year-old boy with several months history of holding items close to his face was found to have reduced visual acuity 6/30 in both eyes, bilateral vitreous syneresis, foveal hypoplasia and bilateral high myopia (-8.50D). A skeletal survey showed spondylo-epi-metaphyseal dysplasia. Whole-exome sequencing (WES) revealed a homozygous LOXL3 variant c.1448_1449del, p.(Thr483Argfs*13), inherited through paternal UPiD of chromosome 2.

Conclusion: To our knowledge, this is the first reported case of LOXL3-associated eoHM, foveal hypoplasia and mild skeletal dysplasia due to the rare phenomenon of paternal UPiD of chromosome 2. This case further delineates the phenotype associated with LOXL3 pathogenic variants and supports truncating LOXL3 pathogenic variants being associated with a phenotypic spectrum; from isolated eoHM through to a Stickler syndrome-like phenotype.

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与LOXL3相关的新型Stickler综合征样表型：病例报告。

目的：报告一例因同种LOXL3致病变异而患有早发高度近视（eoHM）、眼窝发育不全和骨骼发育不良的小男孩的病例。临床病例：临床病例：4 岁男孩，数月前曾将物品紧贴脸部，发现双眼视力下降至 6/30，双侧玻璃体混浊，眼窝发育不全，双侧高度近视（-8.50D）。骨骼检查显示脊柱外胚层-骺软骨发育不良。全外显子组测序（WES）发现了一个同基因的LOXL3变异体c.1448_1449del, p.(Thr483Argfs*13), 通过父系2号染色体的UPiD遗传：据我们所知，这是首例因父系 2 号染色体 UPiD 这一罕见现象而导致的 LOXL3 相关 eoHM、眼窝发育不全和轻度骨骼发育不良的病例。该病例进一步描述了与 LOXL3 致病变体相关的表型，并支持截短的 LOXL3 致病变体与表型谱相关；从孤立的 eoHM 到类似 Stickler 综合征的表型。

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 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.