Cerebellar and Pontocerebellar Hypoplasia

Gene: EXOSC9

Green List (high evidence)

Six unrelated families reported, p.Leu14Pro is a recurrent variant.

Created: 9 Nov 2021, 10:27 p.m. | Last Modified: 9 Nov 2021, 10:27 p.m.

Panel Version: 1.19

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 1D 618065

I don't know

PMID: 29727687 - 4 unrelated individuals, a recurring missense p.(Leu14Pro) was found in all patients (chet and hom):
1 - El-Salvador patient with cerebellar atrophy, MRIs taken at 7 and 21 months of age
1 - Canadian/Jamaican patient with severe cerebellar atrophy, single MRI at 6 days old.
1 - African/European/Filipino patient with cerebellar atrophy, MRIs taken at 6 and 12 months old
Additional Saudi-Arabian child also homozygous for p.(Leu14Pro) has no cerebellar atrophy, had MRI at 9 months old

PMID: 30690203 - 2 unrelated Emerati families with the homozygous p.(Leu14Pro) mutation.
1 - MRI at 13 months showed atrophy of the cerebellar vermis, MRI at 8 months was "unremarkable"
1 - MRI findings volume reduction of the cerebellum and vermis suggestive of mild atrophy (single MRI)


Summary: Multiple patients reported but consistently with brain atrophy rather than hypoplasia, where most had subsequent MRIs proving atrophy has occurred.

Created: 27 Apr 2020, 3:48 a.m. | Last Modified: 27 Apr 2020, 3:48 a.m.

Panel Version: 0.68

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 1D 618065

Publications

• PMID: 29727687
• 30690203