TY - JOUR
T1 - Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders – leukodystrophy and autism
AU - Yamamoto, Toshiyuki
AU - Yamamoto-Shimojima, Keiko
AU - Ueda, Yuki
AU - Imai, Katsumi
AU - Takahashi, Yukitoshi
AU - Imagawa, Eri
AU - Miyake, Noriko
AU - Matsumoto, Naomichi
N1 - Publisher Copyright:
© 2018, The Author(s).
PY - 2018/12/1
Y1 - 2018/12/1
N2 - 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).
AB - 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).
UR - https://www.scopus.com/pages/publications/85069297223
U2 - 10.1038/s41439-018-0020-z
DO - 10.1038/s41439-018-0020-z
M3 - Article
AN - SCOPUS:85069297223
SN - 2054-345X
VL - 5
JO - Human Genome Variation
JF - Human Genome Variation
IS - 1
M1 - 18
ER -