Medical Genetics Section, Hospital Clínico de la Universidad de Chile José Joaquín Aguirre, Santiago, Chile.
Cytogenetics Section, Clínica Alemana de Santiago, Santiago, Chile.
Am J Med Genet A. 2020 Oct;182(10):2239-2242. doi: 10.1002/ajmg.a.61760. Epub 2020 Jul 22.
Knobloch Syndrome (KS) is a rare autosomal recessive hereditary disease. Despite its clinical heterogeneity, it is characterized by vitreoretinal degeneration and high myopia, with or without occipital skull defects. It is caused by mutations in the COL18A1 gene, which codifies for collagen XVIII, present in retina and vascular endothelium. Since the first description of the disease by doctors Knobloch and Layer in 1972, over 100 cases and 20 pathogenic or likely pathogenic mutations have been reported. We present the case of a child born from a consanguineous couple in Chile with congenital high myopia and dysmorphisms without an occipital skull defect. Whole exome sequencing analysis revealed an inherited homozygous variant in COL18A1, c.4224_4225delinsC, p.Pro1411Leufs*35.
诺布洛克综合征（KS）是一种罕见的常染色体隐性遗传疾病。尽管其临床表现具有异质性，但它的特征是玻璃体视网膜变性和高度近视，伴有或不伴有枕骨颅骨缺损。它是由 COL18A1 基因突变引起的，该基因编码存在于视网膜和血管内皮的 XVIII 型胶原。自 1972 年 Knobloch 和 Layer 医生首次描述该疾病以来，已经报道了超过 100 例病例和 20 种致病性或可能致病性突变。我们报告了一例智利出生的近亲夫妇所生的孩子，患有先天性高度近视和颅面畸形，但没有枕骨颅骨缺损。全外显子组测序分析显示 COL18A1 中存在一个遗传性纯合变异，c.4224_4225delinsC，p.Pro1411Leufs*35。
