Genetic Epilepsy

Gene: KIAA1109

Green List (high evidence)

ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures.

More than 10 families reported.

Created: 12 Mar 2022, 1:25 a.m. | Last Modified: 12 Mar 2022, 1:27 a.m.

Panel Version: 0.11295

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alkuraya-Kucinskas syndrome, MIM# 617822

Green List (high evidence)

Severe LOF genotypes are incompatible with life

PMID: 29290337 - >5 patients with cerebellar hypoplasia, found in both post- and prenatal MRI. Patients were diagnosed with a brain development disorder with arthogryposis. Both PTCs and missense reported.

PMID: 30906834 - 1 patient with inferior vermin hypoplasia and pontine hypoplasia. Affected sibling has many brain malformations but cerebellar hypoplasia not noted. Both siblings were diagnosed with a congenital neurological malformation disorder.

Created: 22 Nov 2021, 12:24 a.m. | Last Modified: 22 Nov 2021, 12:24 a.m.

Panel Version: 0.9779

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alkuraya-Kucinskas syndrome MIM#617822

Publications

• 29290337
• 30906834

Variants in this GENE are reported as part of current diagnostic practice