A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene.

Autor:	Kozina AA; Department of Medical Genomics Group, Institute of Biomedical Chemistry, Moscow, Russia.; Department of Science, Genotek Ltd., Moscow, Russia., Kanaeva GK; Medical Center Unity, Makhachkala, Russia., Baryshnikova NV; Department of General and Medical Genetics, Pirogov Russian National Research Medical University, Moscow, Russia.; Department of Science, Genotek Ltd., Moscow, Russia., Ilinskaya AY; Research Department, Eligens SIA, Marupes, Latvia., Kim AA; Department of Science, Genotek Ltd., Moscow, Russia., Erofeeva AV; Department of Science, Genotek Ltd., Moscow, Russia., Pogodina NA; Department of Science, Genotek Ltd., Moscow, Russia., Gadzhiyeva JP; Medical Center Unity, Makhachkala, Russia., Surkova EI; Department of Science, Genotek Ltd., Moscow, Russia., Ilinsky VV; Research Department, Eligens SIA, Marupes, Latvia.
Jazyk:	angličtina
Zdroj:	The Journal of international medical research [J Int Med Res] 2023 Oct; Vol. 51 (10), pp. 3000605231206294.
DOI:	10.1177/03000605231206294
Abstrakt:	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 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. Here, we present a proband with the molar tooth sign, ataxia, and developmental and psychomotor delays in a Dagestan family from Russia. Molecular genetic testing revealed two novel heterozygous variants, c.2924G>A (p.Arg975His) in exon 28 and c.1241C>G (p.Pro414Arg) in exon 12 of the transmembrane protein 67 ( TMEM67 ) gene. These TMEM67 gene variants significantly affected the development of JS type 6. This case highlights the importance of whole exome sequencing for a proper clinical diagnosis of children with complex motor and psycho-language delays. This case also expands the clinical phenotype and genotype of TMEM67 -associated diseases. Competing Interests: Declaration of conflicting interestThe authors declare no potential conflict of interest.
Databáze:	MEDLINE
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