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A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in the OCLN Gene: A Case Report.

ABSTRACT: Microcephaly and microphthalmia are both rare congenital abnormalities, while concurrently, these two are even rarer. The underlying etiology would be complex interplaying between heterogeneous genetic background and the environmental pathogens, particularly during critical periods of early tissue development. Here, we reported a prenatal case with microcephaly, microphthalmia, and bilateral cataracts detected by ultrasonography and confirmed by autopsy. Various routine infection-related tests and invasive genetic testing were negative. Whole genome sequencing of fetus and parents revealed OCLN gene defects may be associated with these multiple congenital abnormalities.

SUBMITTER: Ng VKS

PROVIDER: S-EPMC8472215 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature

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A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in the OCLN Gene: A Case Report.

Ng Vivian Kwun Sin VKS Lau Tze Kin TK Kan Anita Sik Yau ASY Chung Brian Hon Yin BHY Luk Ho Ming HM Ng Wai Fu WF Shi Mengmeng M Choy Kwong Wai KW Cao Ye Y Leung Wing Cheong WC

Diagnostics (Basel, Switzerland) 20210830 9

Microcephaly and microphthalmia are both rare congenital abnormalities, while concurrently, these two are even rarer. The underlying etiology would be complex interplaying between heterogeneous genetic background and the environmental pathogens, particularly during critical periods of early tissue development. Here, we reported a prenatal case with microcephaly, microphthalmia, and bilateral cataracts detected by ultrasonography and confirmed by autopsy. Various routine infection-related tests a ...[more]

PMID: 34573918

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