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Knobloch Syndrome Associated with Novel COL18A1 Variants in Chinese Population.

ABSTRACT: Knobloch syndrome is an inherited disorder characterized by high myopia, retinal detachment, and occipital defects. Disease-causing mutations have been identified in the COL18A1 gene. This study aimed to investigate novel variants of COL18A1 in Knobloch syndrome and describe the associated phenotypes in Chinese patients. We reported six patients with Knobloch syndrome from four unrelated families in whom we identified five novel COL18A1 mutations. Clinical examination showed that all probands presented with high myopia, chorioretinal atrophy, and macular defects; one exhibited rhegmatogenous retinal detachment in one eye. Occipital defects were detected in one patient.

SUBMITTER: Li S

PROVIDER: S-EPMC8536191 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature

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Knobloch Syndrome Associated with Novel COL18A1 Variants in Chinese Population.

Li Songshan S Wang You Y Sun Limei L Yan Wenjia W Huang Li L Zhang Zhaotian Z Zhang Ting T Ding Xiaoyan X

Genes 20210926 10

Knobloch syndrome is an inherited disorder characterized by high myopia, retinal detachment, and occipital defects. Disease-causing mutations have been identified in the COL18A1 gene. This study aimed to investigate novel variants of COL18A1 in Knobloch syndrome and describe the associated phenotypes in Chinese patients. We reported six patients with Knobloch syndrome from four unrelated families in whom we identified five novel COL18A1 mutations. Clinical examination showed ...[more]

PMID: 34680907

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