Disorders

Brittle Cornea Syndrome 1

Synonym(s): BCS1, Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility, Dysgenesis Mesodermalis Corneae Et Sclerae, Fragilitas Oculi with Joint Hyperextensibility

OMIM

Gene	Locus	Protein
ZNF469	16q24	Zinc finger protein 469

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
Connective Tissue Gene Tests - Allentown, PA, USA
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.