Cerebellar and Pontocerebellar Hypoplasia

Gene: FKTN

Comment when marking as ready: Agree, structural brain abnormalities are a feature of more severe FKTN-associated disease, though PCH/cerebellar hypoplasia not prominent (more unusual abnormalities like cerebellar polymicrogyria described).

Created: 29 Apr 2020, 5:55 a.m. | Last Modified: 29 Apr 2020, 5:55 a.m.

Panel Version: 0.134

I don't know

PMID: 17878207 - 1/6 unrelated families had cerebellar hypoplasia, patient was homozygous for a PTC, had Walker-Warburg syndrome (WWS)

PMID: 25821721 - 1 patient with muscular dystrophy, had a normal MRI and two chet missense.

PMID: 19342235 - 2 siblings chet for two missense, do not report any cognitive issues. No MRI, were diagnosed with Limb-Girdle Muscular Dystrophy Without Mental Retardation

PMID: 18177472 - Two patients with WWS, one died soon after birth and was chet for a missense and 3' UTR deletion. This patient only had an MRI showing severe brain malformation but no mention of cerebellar hypoplasia. The second patient was homozygous for a PTC.

PMID: 12601708 - 1 patient with WWS and a homozygous PTC. Patient was an infant and tomography showed cortical atrophy

Summary: Cerebellar hypoplasia may be a feature exclusive to severe WWS, which requires two null/near-null alleles. Need more reports to make it GREEN
Sources: Expert Review

Created: 29 Apr 2020, midnight

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy, dilated, 1X 611615; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588; Walker-Warburg syndrome

Publications

• PMID: 17878207
• 25821721
• 19342235
• 18177472
• 12601708