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

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 (...

Descripción completa

Detalles Bibliográficos
Autores principales: Yamamoto, Toshiyuki, Yamamoto-Shimojima, Keiko, Ueda, Yuki, Imai, Katsumi, Takahashi, Yukitoshi, Imagawa, Eri, Miyake, Noriko, Matsumoto, Naomichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053359/
https://www.ncbi.nlm.nih.gov/pubmed/30083362
http://dx.doi.org/10.1038/s41439-018-0020-z
Descripción
Sumario: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).

Ejemplares similares