Does homozygous CRYBB1 deletion mutation underlie autosomal recessive congenital cataract?
CRYBB1 mutations have been shown to underlie autosomal dominant congenital cataract. The current study showed that a different mutation in the same gene causes an autosomal recessive form of the disease.
Our clinicopathological and molecular findings indicate that there is no justification for the continued use of eponyms in referring to these particular ectodermal dysplasia syndromes. We support the view that the terms ‘Hay-Wells’ and ‘Rapp-Hodgkin’ should be abandoned in favour of the all-inclusive diagnosis ‘AEC syndrome’, notwithstanding the inconsistency or often transient nature of the ankyloblepharon.