Cerebellar and Pontocerebellar Hypoplasia

Gene: FOXP1

Comment when marking as ready: Agree, appears a rare manifestation of this syndrome.

Created: 29 Apr 2020, 4:21 a.m. | Last Modified: 29 Apr 2020, 4:21 a.m.

Panel Version: 0.114

I don't know

Haploinsufficiency has been reported for both missense and PTV, usually described as caused by haploinsufficiency. However dominant negative effects have also been suggested (OMIM)

Cerebellar/pons/vermis hypoplasia/atrophy not reported anywhere in OMIM. Multiple Decipher entries from DDD study, review of some - none mention cerebellar hypoplasia

PMID: 29090079 - 7 patients (aged 5-17yo) had MRIs, 6/7 report brain imaging abnormalities incl. "small partial cavum septum pellucidum (n = 1), mild diffuse periventricular leukomalacia (n = 1), and arachnoid cysts in the left hemisphere and cerebellum. Enlarged ventricles were the most common imaging finding". No mention of cerebellar hypoplasia.

PMID: 28735298 - "Half of the patients show structural brain abnormalities (11/23), including cerebral and/or cerebellar atrophy, cortical, subcortical and deep white matter abnormalities, and/or cerebellar abnormalities".
Even in supplementary tables, NO specific numbers for each abnormality was provided.

Summary: AMBER - though not opposed to RED given how well studies this gene is. Few papers bother with MRIs (not needed) due to the distinct dysmorphic features patients have.

Created: 29 Apr 2020, 12:28 a.m. | Last Modified: 29 Apr 2020, 12:28 a.m.

Panel Version: 0.113

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Mental retardation with language impairment and with or without autistic features 613670

Publications

• PMID: 29090079
• 28735298

Mode of pathogenicity
Other