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.
Dongmao WangPaul TrevillianStephen MayPeter DiakumisYanyan WangDeb ColvilleMelanie BahloUrsula GreferathErica L FletcherBarbara YoungHeather G MackJudy SavigePublished in: Ophthalmic genetics (2022)
variant may have low myopic astigmatism and represent a further rare genetic cause for a thinned glomerular basement membrane.