{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,4]],"date-time":"2026-01-04T10:36:39Z","timestamp":1767522999389,"version":"3.37.3"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,10,9]],"date-time":"2021-10-09T00:00:00Z","timestamp":1633737600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,10,9]],"date-time":"2021-10-09T00:00:00Z","timestamp":1633737600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Science and Technology Commission Foundation of Shanghai Changning District","award":["CNKW2018Y01"],"award-info":[{"award-number":["CNKW2018Y01"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81971181"],"award-info":[{"award-number":["81971181"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007219","name":"Shanghai Natural Science Foundation","doi-asserted-by":"crossref","award":["19ZR1449200"],"award-info":[{"award-number":["19ZR1449200"]}],"id":[{"id":"10.13039\/100007219","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Joubert syndrome (JS) is a group of rare congenital disorders characterized by cerebellar vermis dysplasia, developmental delay, and retina dysfunctions. Herein, we reported a Chinese patient carrying a new variant in the <jats:italic>AHI1<\/jats:italic> gene with mild JS, and the 3D structure of the affected Jouberin protein was also predicted.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>The patient was a 31-year-old male, who presented difficulty at finding toys at the age of 2\u00a0years, night blindness from age of\u00a05\u00a0years, intention tremor and walking imbalance from 29\u00a0years of age. Tubular visual field and retina pigmentation were observed on ophthalmology examinations, as well as molar tooth sign on brain magnetic resonance imaging (MRI). Whole exome sequence revealed two compound heterozygous variants at c.2105C&gt;T (p.T702M) and c.1330A&gt;T (p.I444F) in A<jats:italic>HI1<\/jats:italic> gene. The latter one was a novel mutation. The 3D protein structure was predicted using I-TASSER and PyMOL, showing structural changes from functional \u03b2-sheet and \u03b1-helix to non-functional D-loop, respectively.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Mild JS due to novel variants at T702M and I444F in the <jats:italic>AHI1<\/jats:italic> gene was reported. The 3D-structural changes in Jouberin protein might underlie the pathogenesis of JS.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-021-01089-5","type":"journal-article","created":{"date-parts":[[2021,10,10]],"date-time":"2021-10-10T20:16:05Z","timestamp":1633896965000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Retinitis pigmentosa and molar tooth sign caused by novel AHI1 compound heterozygote pathogenic variants"],"prefix":"10.1186","volume":"14","author":[{"given":"Chunyan","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiong","family":"Gao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qing","family":"Lv","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu","family":"Xia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0709-923X","authenticated-orcid":false,"given":"Ailian","family":"Du","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,10,9]]},"reference":[{"issue":"5","key":"1089_CR1","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1038\/sj.ejhg.5201648","volume":"15","author":"MA Parisi","year":"2007","unstructured":"Parisi MA, Doherty D, Chance PF, Glass IA. Joubert syndrome (and related disorders) (OMIM 213300). Eur J Hum Genet. 2007;15(5):511\u201321.","journal-title":"Eur J Hum Genet"},{"issue":"3","key":"1089_CR2","first-page":"302","volume":"18","author":"M Joubert","year":"1968","unstructured":"Joubert M, Eisenring JJ, Andermann F. Familial dysgenesis of the vermis: a syndrome of hyperventilation, abnormal eye movements and retardation. Neurology. 1968;18(3):302\u20133.","journal-title":"Neurology"},{"issue":"9","key":"1089_CR3","doi-asserted-by":"publisher","first-page":"894","DOI":"10.1016\/S1474-4422(13)70136-4","volume":"12","author":"M Romani","year":"2013","unstructured":"Romani M, Micalizzi A, Valente EM. Joubert syndrome: congenital cerebellar ataxia with the molar tooth. 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Written informed consent to participate was obtained from the patient and both of his parents.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent for publication of the case was obtained for the patient and his parents. In this study, no case was under the age of 16.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"The data that support the findings of this study have been deposited into CNGB Sequence Archive (CNSA) [] of China National GeneBank DataBase (CNGBdb) [] () with accession number CNP0002094.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Availability of data and materials"}}],"article-number":"242"}}