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

Autor:	Vivian Kwun Sin Ng, Tze Kin Lau, Anita Sik Yau Kan, Brian Hon Yin Chung, Ho Ming Luk, Wai Fu Ng, Mengmeng Shi, Kwong Wai Choy, Ye Cao, Wing Cheong Leung
Jazyk:	angličtina
Rok vydání:	2021
Předmět:	OCLN gene whole genome sequencing microphthalmia microcephaly cataract prenatal diagnosis Medicine (General) R5-920
Zdroj:	Diagnostics, Vol 11, Iss 9, p 1576 (2021)
Druh dokumentu:	article
ISSN:	11091576 2075-4418
DOI:	10.3390/diagnostics11091576
Popis:	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.
Databáze:	Directory of Open Access Journals
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