{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T12:57:53Z","timestamp":1777726673238,"version":"3.51.4"},"reference-count":27,"publisher":"SAGE Publications","issue":"10","license":[{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012190","name":"Ministry of Science and Higher Education of the Russian Federation","doi-asserted-by":"crossref","award":["75-15-2022-305"],"award-info":[{"award-number":["75-15-2022-305"]}],"id":[{"id":"10.13039\/501100012190","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:p>Joubert syndrome (JS) is a recessive disorder that is characterized by midbrain-hindbrain malformation and shows the \u201cmolar tooth sign\u201d 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&gt;A (p.Arg975His) in exon 28 and c.1241C&gt;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.<\/jats:p>","DOI":"10.1177\/03000605231206294","type":"journal-article","created":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T16:26:55Z","timestamp":1698856015000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["A case of Joubert syndrome caused by novel compound heterozygous variants in the\n                    <i>TMEM67<\/i>\n                    gene"],"prefix":"10.1177","volume":"51","author":[{"given":"Anastasiya Aleksandrovna","family":"Kozina","sequence":"first","affiliation":[{"name":"Department of Medical Genomics Group, Institute of Biomedical Chemistry, Moscow, Russia"},{"name":"Department of Science, Genotek Ltd., Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guria Kurbanovna","family":"Kanaeva","sequence":"additional","affiliation":[{"name":"Medical Center Unity, Makhachkala, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia Vladimirovna","family":"Baryshnikova","sequence":"additional","affiliation":[{"name":"Department of General and Medical Genetics, Pirogov Russian National Research Medical University, Moscow, Russia"},{"name":"Department of Science, Genotek Ltd., Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna Yurievna","family":"Ilinskaya","sequence":"additional","affiliation":[{"name":"Research Department, Eligens SIA, Marupes, Latvia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna Alexandrovna","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Science, Genotek Ltd., Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anastasia Vladimirovna","family":"Erofeeva","sequence":"additional","affiliation":[{"name":"Department of Science, Genotek Ltd., Moscow, 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