Early-onset Parkinson disease

Gene: KIAA1161

Green List (high evidence)

Gene name has been updated from KIA1161 to MYORG.
Homozygous and compound heterozygous of 9 different variants (missense, nonsense, insertion, deletions) found in the MYORG gene in 12 patients with basal ganglia calcifications from 6 unrelated Chinese families. Mouse knockout was generated, which showed brain calcifications. (Yao, XP. et al. (2018) PMID: 29910000).
French study: Homozygous and compound heterozygous variants in 11 unrelated families with PFBC. (6 sporadic cases and 5 families with 2 or 3 affected siblings). The authors conclude this gene causes a specific recognisable phenotype: initial dysarthria followed by cerebellar and pyramidal syndromes with akinetic-hypertonic syndrome; (ii) extensive calcifications encompassing the brainstem and more specifically the pons; and (iii) cerebellar atrophy. High clinical penetrance. Note: 3 of the fathers of the probands displayed non-diffuse calcifications, suggestive of a semi-dominant inheritance pattern with incomplete penetrance. (Grangeon L. et al. (2019) ; PMID: 31009047).

Created: 20 Jul 2022, 3:25 a.m. | Last Modified: 20 Jul 2022, 3:25 a.m.

Panel Version: 0.212

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM #618317

Publications

• 30656188
• 30649222
• 30460687
• 29910000
• 31951047

Green List (high evidence)

Sources: Literature

Created: 19 Jul 2022, 10:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary familial brain calcification; Atypical parkinsonism; Supranuclear gaze palsy; OMIM 618317

Publications

• PMID: 32211515