A case of Joubert syndrome caused by novel compound heterozygous variants in the gene.

Joubert syndrome (JS) is a recessive disorder that is characterized by midbrain-hindbrain malformation and shows the "molar tooth sign" on magnetic resonance imaging. Mutations in 40 genes, including Abelson helper integration site 1 (), inositol polyphosphate-5-phosphatase (), coiled-coil and c2 domain-containing protein 2A (), and ARL2-like protein 1 (), can cause JS. Classic JS is a part of a group of diseases associated with JS, and its manifestations include various neurological signs such as skeletal abnormalities, ocular coloboma, renal disease, and hepatic fibrosis.

Novel mutation in the gene causes early-onset but slow-progressive Charcot-Marie-Tooth disease in a Russian family: a case report.

Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous group of peripheral neuropathies most of which are associated with mutations in four genes including peripheral myelin protein-22 (, myelin protein zero (), gap junction protein beta1 () and mitofusin2 (). This current case report describes the clinical and genetic characteristics of a 6-year-old male proband. A physical examination revealed muscular hypotonia.

Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report.

Background: Epilepsy with intellectual disability limited to females (Epileptic encephalopathy, early infantile, 9; EIEE9) is a rare early infantile epileptic encephalopathy characterized by an unusual X-linked inheritance: females with heterozygous mutations are affected, while hemizygous males are not.

Case Presentation: We describe the clinical and molecular characteristics of 2 Russian patients with EIEE9 (females, ages 3 years and 7 years). In these patients seizures developed at the age of 3 years.

A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report.

Background: Neuronal ceroid lipofuscinoses (NCLs) are the most common autosomal recessive neurodegenerative disorders in children. Clinical manifestations include progressive cognitive decline, motor impairment, ataxia, visual loss, seizures and early death. To date more than 440 NCL-causing mutations in 13 genes are known.