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A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 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 (AHI1), inositol polyphosphate-5-phosphatase (INPP5E), coiled-coil...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10621312/
https://www.ncbi.nlm.nih.gov/pubmed/37910852
http://dx.doi.org/10.1177/03000605231206294
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author 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
author_facet 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
author_sort Kozina, Anastasiya Aleksandrovna
collection PubMed
description 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.
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spelling pubmed-106213122023-11-03 A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene 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 J Int Med Res Case Report and Case Series 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. SAGE Publications 2023-11-01 /pmc/articles/PMC10621312/ /pubmed/37910852 http://dx.doi.org/10.1177/03000605231206294 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by-nc/4.0/Creative Commons Non Commercial CC BY-NC: This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Case Report and Case Series
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
A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene
title A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene
title_full A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene
title_fullStr A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene
title_full_unstemmed A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene
title_short A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene
title_sort case of joubert syndrome caused by novel compound heterozygous variants in the tmem67 gene
topic Case Report and Case Series
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10621312/
https://www.ncbi.nlm.nih.gov/pubmed/37910852
http://dx.doi.org/10.1177/03000605231206294
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