A Recurrent Variant in < b > < i > POLR1B < /i > < /b > , c.3007C & #x3e;T; p.Arg1003Cys, Associated with Atresia of the External Canal and Microtia in Treacher Collins Syndrome Type 4

We describe another patient with TCS4 caused by a recurrentPOLR1B variant, c.3007C#x3e;T; p.Arg1003Cys. Including our patient, all 4 patients with p.(Arg1003Cys) had atresia of the external auditory canal and microtia. All of the reported pathogenic variants inPOLR1B were clustered at only 2 residues. Our patient highlights the genotype-phenotype correlation in TCS4 associated withPOLR1B.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research