Article
KCTD1 and Scalp-Ear-Nipple ('Finlay-Marks') syndrome may be associated with myopia and Thin basement membrane nephropathy through an effect on the collagen IV α3 and α4 chains.
Ophthalmic genetics - 1 Feb 2023
Wang Dongmao, Trevillian Paul, May Stephen, Diakumis Peter, Wang Yanyan, Colville Deb, Bahlo Melanie, Greferath Una, Fletcher Erica, Young Barbara, Mack Heather G, Savige Judy
Abstract excerpt
INTRODUCTION: Scalp-Ear-Nipple syndrome is caused by pathogenic KCTD1 variants and characterised by a scalp defect, prominent ears, and rudimentary breasts. We describe here further clinical associations in the eye and kidney. METHODS: Fifteen affected members from two unrelated families with p.(Ala30Glu) or p.(Pro31Leu) in KCTD1 were examined for ocular and renal abnormalities. The relevant proteins were studied...
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