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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 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).

SUBMITTER: Yamamoto T

PROVIDER: S-EPMC6053359 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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

Yamamoto Toshiyuki T Yamamoto-Shimojima Keiko K Ueda Yuki Y Imai Katsumi K Takahashi Yukitoshi Y Imagawa Eri E Miyake Noriko N Matsumoto Naomichi N

Human genome variation 20180719

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.Arg167 ...[more]

PMID: 30083362

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