Dystonia - isolated/combined

Gene: KMT2B

Green List (high evidence)

Dystonia-28 is an autosomal dominant neurologic disorder characterized by onset of progressive dystonia in the first decade of life. Dystonia typically begins focally in the lower limbs, resulting in gait difficulties, with later progression to other body regions, including the upper limbs, neck, and orofacial region. The severity is variable, and some patients may become wheelchair-bound. Many individuals also have an elongated face with bulbous nose, and some have abnormal eye movements. About half of patients show delayed motor and/or cognitive development with mild intellectual disability.

Created: 29 Apr 2021, 8 a.m. | Last Modified: 29 Apr 2021, 8 a.m.

Panel Version: 0.48

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dystonia 28, childhood-onset 617284; MONDO:0015004

Green List (high evidence)

OMIM phenotype 617284
Zech et al., 2016 - 4 unrelated individuals with early onset dystonia, one with frameshift variant, one canonical splice site variant, one de novo nonsense variant, one inherited nonsense variant segregating with the disorder in the family
Meyer et al 2017 - 17 patients w childhood onset dystonia: frameshift insertions (n = 1), frameshift deletions (n = 6), and splice-site (n = 1), stop-gain (n = 2) and missense (n = 7) variants

Created: 16 Jan 2020, 11:55 p.m. | Last Modified: 16 Jan 2020, 11:55 p.m.

Panel Version: 0.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dystonia 28, childhood-onset OMIM 617284

Publications

• 27839873
• 27992417