Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders – leukodystrophy and autism

Abstract

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 <i>HSPD1</i> c.139T > G (p.Leu47Val) and <i>HIP1</i> c.1393G > A (p.Glu465Lys), respectively. These novel variants were predicted to be pathogenic. Both patients also had a known <i>MECP2</i> variant, c.499C > T (p.Arg167Trp).