Genomic Profiling of Anophthalmia/Microphthalmia-Associated CNVs Reveals Complex Genotype-Phenotype Correlations and Incomplete Penetrance.

doi:10.1002/mgg3.70282

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Article

Genomic Profiling of Anophthalmia/Microphthalmia-Associated CNVs Reveals Complex Genotype-Phenotype Correlations and Incomplete Penetrance.

Molecular genetics & genomic medicine - 1 Sept 2026

Wu Dong, Zhang Mengting, Zhang Qian, Wang Fengyang, Hou Qiaofang, Liu Hongyan, Liao Shixiu, Xiao Hai

Abstract excerpt

BACKGROUND: Anophthalmia/microphthalmia (A/M) is a severe congenital ocular malformation characterized by the complete absence or small size of the eye bulb. Interpreting copy number variations (CNVs) in A/M is challenged by variable genotype-phenotype correlations and reduced penetrance. This study investigated the genetic etiology of A/M-associated CNVs. METHODS: Genomic profiling was performed on four...

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Topics

Female
Humans
Male
Anophthalmos
Chromosome Deletion
DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Genetic Association Studies

Microphthalmos

Otx Transcription Factors

Pedigree

Penetrance

Phenotype

SOXB1 Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 42695167
DOI: 10.1002/mgg3.70282
PMCID: PMC13542985

Genes

OTX2
SOX2

Provenance

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