Article
Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease.
Human molecular genetics - 26 Jun 2021
Lee Winston, Zernant Jana, Nagasaki Takayuki, Molday Laurie L, Su Pei-Yin, Fishman Gerald A, Tsang Stephen H, Molday Robert S, Allikmets Rando
Abstract excerpt
Over 1200 variants in the ABCA4 gene cause a wide variety of retinal disease phenotypes, the best known of which is autosomal recessive Stargardt disease (STGD1). Disease-causing variation encompasses all mutation categories, from large copy number variants to very mild, hypomorphic missense variants. The most prevalent disease-causing ABCA4 variant, present in ~ 20% of cases of European descent, c.5882G > A...
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