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NG_012236.2:g.11027del AND Corneal fragility keratoglobus, blue sclerae AND joint hypermobility

Significance: Pathogenic
ClinVar: RCV000000766

Variant: NG_012236.2:g.11027del

Type: Variant
Allele: NG_012236.2:g.11027del 15769
Gene:
Type: Deletion
Location: Chr16: 88499905 - assembly GRCh37
Chr16: 88433497 - assembly GRCh38
References: OMIM: 612078.0001

Condition

Disease: Corneal fragility keratoglobus, blue sclerae AND joint hypermobility

Citation

    In 5 affected individuals from 4 consanguineous Tunisian Jewish families with brittle cornea syndrome-1 (229200), including the family originally reported by Ticho et al. (1980), Abu et al. (2008) identified homozygosity for a 1-bp deletion (5294delA) in the ZNF469 gene, predicted to result in a stop codon 16 amino acids downstream. The mutation was not found in 200 ethnically matched controls or in 100 controls from other ethnic backgrounds.
PMID:18452888, PMID:7387950