Conference presentation/abstract ESGH 2020 - Implication of FOXD2 in autosomal recessive syndromic CAKUT Korbinian M. Riedhammer Report index patient with CAKUT with a homozygous frameshift variant in FOXD2 NM_004474.3:c.789dup, p.(Gly264Argfs*228). The patient presented with bilateral hypoplastic kidneys, facial dysmorphism, developmental delay. Another affected family member was found to have the same variant. FOXD2 is a transcription factor with strong expression in the developing kidney. Foxd2-/- mice can show a CAKUT phenotype. No publications in PubMed relating to this data are currently found.
Created: 7 Jun 2020, 3:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Tag watchlist tag was added to gene: FOXD2.
gene: FOXD2 was added gene: FOXD2 was added to CAKUT. Sources: Other Mode of inheritance for gene: FOXD2 was set to BIALLELIC, autosomal or pseudoautosomal