OBJECTIVE: To explore the genetic etiology for a newborn with corneal opacity. METHODS: The neonate and her parents were subjected to routine G-banding chromosomal karyotyping analysis. Copy number variation (CNV) was analyzed with low-coverage whole-genome sequencing (WGS) and single nucleotide polymorphism microarray (SNP array). RESULTS: No karyotypic abnormality was found in the newborn and her parents. Low-coverage WGS has identified a de novo 5.5 Mb microdeletion at chromosome 8q21.11-q21.13 in the neonate, which encompassed the ZFHX4 and PEX2 genes. The result was confirmed by SNP array-based CNV analysis. CONCLUSION The newborn was diagnosed with chromosome 8q21.11 deletion syndrome. ZFHX4 may be one of the key genes underlying this syndrome.
Chromosome Banding ; Chromosomes, Human, Pair 8/genetics* ; DNA Copy Number Variations ; Female ; Genetic Testing ; Homeodomain Proteins/genetics* ; Humans ; Infant, Newborn ; Karyotyping ; Monosomy/genetics* ; Peroxisomal Biogenesis Factor 2/genetics* ; Polymorphism, Single Nucleotide ; Transcription Factors/genetics*