Home > Publications database > A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity. > print

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005     20240301130855.0
024 7 _ |a 10.1038/s41431-017-0031-0
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024 7 _ |a 1018-4813
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024 7 _ |a 1476-5438
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037 _ _ |a DKFZ-2022-01918
041 _ _ |a English
082 _ _ |a 610
100 1 _ |a Rafiullah, Rafiullah
|b 0
245 _ _ |a A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity.
260 _ _ |a Basingstoke
|c 2017
|b Stockton Press
336 7 _ |a article
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336 7 _ |a Output Types/Journal article
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336 7 _ |a Journal Article
|b journal
|m journal
|0 PUB:(DE-HGF)16
|s 1660911050_30405
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336 7 _ |a ARTICLE
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336 7 _ |a JOURNAL_ARTICLE
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336 7 _ |a Journal Article
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500 _ _ |a DKFZ-ZMBH Alliance
520 _ _ |a ARL13B encodes for the ADP-ribosylation factor-like 13B GTPase, which is required for normal cilia structure and Sonic hedgehog (Shh) signaling. Disruptions in cilia structure or function lead to a class of human disorders called ciliopathies. Joubert syndrome is characterized by a wide spectrum of symptoms, including a variable degree of intellectual disability, ataxia, and ocular abnormalities. Here we report a novel homozygous missense variant c.[223G>A] (p.(Gly75Arg) in the ARL13B gene, which was identified by whole-exome sequencing of a trio from a consanguineous family with multiple-affected individuals suffering from intellectual disability, ataxia, ocular defects, and epilepsy. The same variant was also identified in a second family. We saw a striking difference in the severity of ataxia between affected male and female individuals in both families. Both ARL13B and ARL13B-c.[223G>A] (p.(Gly75Arg) expression rescued the cilia length and Shh defects displayed by Arl13b hennin (null) cells, indicating that the variant did not disrupt either ARL13B function. In contrast, ARL13B-c.[223G>A] (p.(Gly75Arg) displayed a marked loss of ARL3 guanine nucleotide-exchange factor activity, with retention of its GTPase activities, highlighting the correlation between its loss of function as an ARL3 guanine nucleotide-exchange factor and Joubert syndrome.
536 _ _ |a 312 - Functional and structural genomics (POF3-312)
|0 G:(DE-HGF)POF3-312
|c POF3-312
|f POF III
|x 0
588 _ _ |a Dataset connected to CrossRef, PubMed, , Journals: inrepo02.dkfz.de
650 _ 7 |a Guanosine Triphosphate
|0 86-01-1
|2 NLM Chemicals
650 _ 7 |a ADP-Ribosylation Factors
|0 EC 3.6.5.2
|2 NLM Chemicals
650 _ 7 |a Arl13b protein, human
|0 EC 3.6.5.2
|2 NLM Chemicals
650 _ 2 |a ADP-Ribosylation Factors: genetics
|2 MeSH
650 _ 2 |a ADP-Ribosylation Factors: metabolism
|2 MeSH
650 _ 2 |a Abnormalities, Multiple: diagnosis
|2 MeSH
650 _ 2 |a Abnormalities, Multiple: genetics
|2 MeSH
650 _ 2 |a Adolescent
|2 MeSH
650 _ 2 |a Adult
|2 MeSH
650 _ 2 |a Animals
|2 MeSH
650 _ 2 |a Cell Line, Tumor
|2 MeSH
650 _ 2 |a Cells, Cultured
|2 MeSH
650 _ 2 |a Cerebellum: abnormalities
|2 MeSH
650 _ 2 |a Child
|2 MeSH
650 _ 2 |a Eye Abnormalities: diagnosis
|2 MeSH
650 _ 2 |a Eye Abnormalities: genetics
|2 MeSH
650 _ 2 |a Female
|2 MeSH
650 _ 2 |a Guanosine Triphosphate: metabolism
|2 MeSH
650 _ 2 |a Homozygote
|2 MeSH
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Kidney Diseases, Cystic: diagnosis
|2 MeSH
650 _ 2 |a Kidney Diseases, Cystic: genetics
|2 MeSH
650 _ 2 |a Loss of Function Mutation
|2 MeSH
650 _ 2 |a Male
|2 MeSH
650 _ 2 |a Mice
|2 MeSH
650 _ 2 |a Mutation, Missense
|2 MeSH
650 _ 2 |a Pedigree
|2 MeSH
650 _ 2 |a Retina: abnormalities
|2 MeSH
700 1 _ |a Long, Alyssa B
|b 1
700 1 _ |a Ivanova, Anna A
|b 2
700 1 _ |a Ali, Hazrat
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700 1 _ |a Berkel, Simone
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700 1 _ |a Mustafa, Ghulam
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700 1 _ |a Paramasivam, Nagarajan
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700 1 _ |a Schlesner, Matthias
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700 1 _ |a Wiemann, Stefan
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700 1 _ |a Wade, Rebecca C
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700 1 _ |a Bolthauser, Eugen
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700 1 _ |a Blum, Martin
|b 11
700 1 _ |a Kahn, Richard A
|b 12
700 1 _ |a Caspary, Tamara
|b 13
700 1 _ |a Rappold, Gudrun A
|b 14
773 _ _ |a 10.1038/s41431-017-0031-0
|g Vol. 25, no. 12, p. 1324 - 1334
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|n 12
|p 1324 - 1334
|t European journal of human genetics
|v 25
|y 2017
|x 1018-4813
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