{Reference Type}: Case Reports
{Title}: Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.
{Author}: Quélin C;Loget P;Boutaud L;Elkhartoufi N;Milon J;Odent S;Fradin M;Demurger F;Pasquier L;Thomas S;Attié-Bitach T;
{Journal}: Am J Med Genet A
{Volume}: 176
{Issue}: 7
{Year}: 07 2018
{Factor}: 2.578
{DOI}: 10.1002/ajmg.a.38685
{Abstract}: Ciliopathies comprise a group of clinically heterogeneous and overlapping disorders with a wide spectrum of phenotypes ranging from prenatal lethality to adult-onset disorders. Pathogenic variants in more than 100 ciliary protein-encoding genes have been described, most notably those involved in intraflagellar transport (IFT) which comprises two protein complexes, responsible for retrograde (IFT-A) and anterograde transport (IFT-B). Here we describe a fetus with an unclassified severe ciliopathy phenotype including short ribs, polydactyly, bilateral renal agenesis, and imperforate anus, with compound heterozygosity for c.118_125del, p.(Thr40Glyfs*11) and a c.352 +1G > T in IFT27, which encodes a small GTPase component of the IFT-B complex. We conclude that bilateral renal agenesis is a rare feature of this severe ciliopathy and this report highlights the phenotypic overlap of Pallister-Hall syndrome and ciliopathies. The phenotype in patients with IFT27 gene variants is wide ranging from Bardet-Biedl syndrome to a lethal phenotype.