Article
Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases.
Human mutation - 1 Dec 2020
Montenegro-Garreaud Ximena, Hansen Adam W, Khayat Michael M, Chander Varuna, Grochowski Christopher M, Jiang Yunyun, Li He, Mitani Tadahiro, Kessler Elena, Jayaseelan Joy, Shen Hua, Gezdirici Alper, Pehlivan Davut, Meng Qingchang, Rosenfeld Jill A, Jhangiani Shalini N, Madan-Khetarpal Suneeta, Scott Daryl A, Abarca-Barriga Hugo, Trubnykova Milana, Gingras Marie-Claude, Muzny Donna M, Posey Jennifer E, Liu Pengfei, Lupski James R, Gibbs Richard A
Abstract excerpt
KIF1A is a molecular motor for membrane-bound cargo important to the development and survival of sensory neurons. KIF1A dysfunction has been associated with several Mendelian disorders with a spectrum of overlapping phenotypes, ranging from spastic paraplegia to intellectual disability. We present a novel pathogenic in-frame deletion in the KIF1A molecular motor domain inherited by two affected siblings from an...
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