Article
A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene.
The Journal of international medical research - 1 Oct 2023
Kozina Anastasiya Aleksandrovna, Kanaeva Guria Kurbanovna, Baryshnikova Natalia Vladimirovna, Ilinskaya Anna Yurievna, Kim Anna Alexandrovna, Erofeeva Anastasia Vladimirovna, Pogodina Nadezhda Andreevna, Gadzhiyeva Jamilya Payzutdinova, Surkova Ekaterina Ivanovna, Ilinsky Valery Vladimirovich
Abstract excerpt
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 (AHI1), inositol polyphosphate-5-phosphatase (INPP5E), coiled-coil and c2 domain-containing protein 2A (CC2D2A), and ARL2-like protein 1 (ARL13B), can cause JS. Classic JS is a part...
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