%0 Journal Article
%T Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders ¨C leukodystrophy and autism
%J -
%D 2018
%R https://doi.org/10.1038/s41439-018-0020-z
%X Consecutive occurrence of de novo variants in the same family is an extremely rare phenomenon. Two siblings, a younger brother with hypomyelinating leukodystrophy and an elder brother with severe intellectual disability and autistic features, had independent de novo variants of HSPD1 c.139T£¿>£¿G (p.Leu47Val) and HIP1 c.1393G£¿>£¿A (p.Glu465Lys), respectively. These novel variants were predicted to be pathogenic. Both patients also had a known MECP2 variant, c.499C£¿>£¿T (p.Arg167Trp)
%U https://www.nature.com/articles/s41439-018-0020-z