Genome sequencing identifies biallelic variants in SCLT1 in a patient with syndromic nephronophthisis: Reflections on the SCLT1-related ciliopathy spectrum. Gillesse, E., Wade, A., Parboosingh, J. S., Au, P. Y. B., Bernier, F. P., Consortium, C., Lamont, R. E., & Innes, A. M. American Journal of Medical Genetics Part A, n/a(n/a):e63789, June, 2024. ![Genome sequencing identifies biallelic variants in SCLT1 in a patient with syndromic nephronophthisis: Reflections on the SCLT1-related ciliopathy spectrum [link]](https://bibbase.org/img/filetypes/link.svg "link")
Paper doi abstract bibtex Ciliopathies represent a major category of rare multisystem disease. Arriving at a specific diagnosis for a given patient is challenged by the significant genetic and clinical heterogeneity of these conditions. We report the outcome of the diagnostic odyssey of a child with obesity, renal, and retinal disease. Genome sequencing identified biallelic splice site variants in sodium channel and clathrin linker 1 (SCLT1), an emerging ciliopathy gene. We review the literature on all patients reported with biallelic SCLT1 variants highlighting a frequent clinical presentation that overlaps Bardet–Biedl and Senior–Loken syndromes. We also discuss current concepts in syndrome designation in light of these data.
@article{gillesse_genome_2024,
title = {Genome sequencing identifies biallelic variants in {SCLT1} in a patient with syndromic nephronophthisis: {Reflections} on the {SCLT1}-related ciliopathy spectrum},
volume = {n/a},
copyright = {© 2024 Wiley Periodicals LLC.},
issn = {1552-4833},
shorttitle = {Genome sequencing identifies biallelic variants in {SCLT1} in a patient with syndromic nephronophthisis},
url = {https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.63789},
doi = {10.1002/ajmg.a.63789},
abstract = {Ciliopathies represent a major category of rare multisystem disease. Arriving at a specific diagnosis for a given patient is challenged by the significant genetic and clinical heterogeneity of these conditions. We report the outcome of the diagnostic odyssey of a child with obesity, renal, and retinal disease. Genome sequencing identified biallelic splice site variants in sodium channel and clathrin linker 1 (SCLT1), an emerging ciliopathy gene. We review the literature on all patients reported with biallelic SCLT1 variants highlighting a frequent clinical presentation that overlaps Bardet–Biedl and Senior–Loken syndromes. We also discuss current concepts in syndrome designation in light of these data.},
language = {en},
number = {n/a},
urldate = {2024-06-28},
journal = {American Journal of Medical Genetics Part A},
author = {Gillesse, E. and Wade, A. and Parboosingh, J. S. and Au, P. Y. B. and Bernier, F. P. and Consortium, C4r and Lamont, R. E. and Innes, A. M.},
month = jun,
year = {2024},
keywords = {Alamut Visual Plus, Bardet–Biedl, Senior–Loken, ciliopathy, genome sequencing, nephronophthisis, syndrome delineation},
pages = {e63789},
}
Downloads: 0
{"_id":"JFcfBjXTwJszSnaqc","bibbaseid":"gillesse-wade-parboosingh-au-bernier-consortium-lamont-innes-genomesequencingidentifiesbiallelicvariantsinsclt1inapatientwithsyndromicnephronophthisisreflectionsonthesclt1relatedciliopathyspectrum-2024","author_short":["Gillesse, E.","Wade, A.","Parboosingh, J. S.","Au, P. Y. B.","Bernier, F. P.","Consortium, C.","Lamont, R. E.","Innes, A. M."],"bibdata":{"bibtype":"article","type":"article","title":"Genome sequencing identifies biallelic variants in SCLT1 in a patient with syndromic nephronophthisis: Reflections on the SCLT1-related ciliopathy spectrum","volume":"n/a","copyright":"© 2024 Wiley Periodicals LLC.","issn":"1552-4833","shorttitle":"Genome sequencing identifies biallelic variants in SCLT1 in a patient with syndromic nephronophthisis","url":"https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.63789","doi":"10.1002/ajmg.a.63789","abstract":"Ciliopathies represent a major category of rare multisystem disease. Arriving at a specific diagnosis for a given patient is challenged by the significant genetic and clinical heterogeneity of these conditions. We report the outcome of the diagnostic odyssey of a child with obesity, renal, and retinal disease. Genome sequencing identified biallelic splice site variants in sodium channel and clathrin linker 1 (SCLT1), an emerging ciliopathy gene. We review the literature on all patients reported with biallelic SCLT1 variants highlighting a frequent clinical presentation that overlaps Bardet–Biedl and Senior–Loken syndromes. We also discuss current concepts in syndrome designation in light of these data.","language":"en","number":"n/a","urldate":"2024-06-28","journal":"American Journal of Medical Genetics Part A","author":[{"propositions":[],"lastnames":["Gillesse"],"firstnames":["E."],"suffixes":[]},{"propositions":[],"lastnames":["Wade"],"firstnames":["A."],"suffixes":[]},{"propositions":[],"lastnames":["Parboosingh"],"firstnames":["J.","S."],"suffixes":[]},{"propositions":[],"lastnames":["Au"],"firstnames":["P.","Y.","B."],"suffixes":[]},{"propositions":[],"lastnames":["Bernier"],"firstnames":["F.","P."],"suffixes":[]},{"propositions":[],"lastnames":["Consortium"],"firstnames":["C4r"],"suffixes":[]},{"propositions":[],"lastnames":["Lamont"],"firstnames":["R.","E."],"suffixes":[]},{"propositions":[],"lastnames":["Innes"],"firstnames":["A.","M."],"suffixes":[]}],"month":"June","year":"2024","keywords":"Alamut Visual Plus, Bardet–Biedl, Senior–Loken, ciliopathy, genome sequencing, nephronophthisis, syndrome delineation","pages":"e63789","bibtex":"@article{gillesse_genome_2024,\n\ttitle = {Genome sequencing identifies biallelic variants in {SCLT1} in a patient with syndromic nephronophthisis: {Reflections} on the {SCLT1}-related ciliopathy spectrum},\n\tvolume = {n/a},\n\tcopyright = {© 2024 Wiley Periodicals LLC.},\n\tissn = {1552-4833},\n\tshorttitle = {Genome sequencing identifies biallelic variants in {SCLT1} in a patient with syndromic nephronophthisis},\n\turl = {https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.63789},\n\tdoi = {10.1002/ajmg.a.63789},\n\tabstract = {Ciliopathies represent a major category of rare multisystem disease. Arriving at a specific diagnosis for a given patient is challenged by the significant genetic and clinical heterogeneity of these conditions. We report the outcome of the diagnostic odyssey of a child with obesity, renal, and retinal disease. Genome sequencing identified biallelic splice site variants in sodium channel and clathrin linker 1 (SCLT1), an emerging ciliopathy gene. We review the literature on all patients reported with biallelic SCLT1 variants highlighting a frequent clinical presentation that overlaps Bardet–Biedl and Senior–Loken syndromes. We also discuss current concepts in syndrome designation in light of these data.},\n\tlanguage = {en},\n\tnumber = {n/a},\n\turldate = {2024-06-28},\n\tjournal = {American Journal of Medical Genetics Part A},\n\tauthor = {Gillesse, E. and Wade, A. and Parboosingh, J. S. and Au, P. Y. B. and Bernier, F. P. and Consortium, C4r and Lamont, R. E. and Innes, A. M.},\n\tmonth = jun,\n\tyear = {2024},\n\tkeywords = {Alamut Visual Plus, Bardet–Biedl, Senior–Loken, ciliopathy, genome sequencing, nephronophthisis, syndrome delineation},\n\tpages = {e63789},\n}\n\n\n\n\n\n\n\n","author_short":["Gillesse, E.","Wade, A.","Parboosingh, J. S.","Au, P. Y. B.","Bernier, F. P.","Consortium, C.","Lamont, R. E.","Innes, A. M."],"key":"gillesse_genome_2024","id":"gillesse_genome_2024","bibbaseid":"gillesse-wade-parboosingh-au-bernier-consortium-lamont-innes-genomesequencingidentifiesbiallelicvariantsinsclt1inapatientwithsyndromicnephronophthisisreflectionsonthesclt1relatedciliopathyspectrum-2024","role":"author","urls":{"Paper":"https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.63789"},"keyword":["Alamut Visual Plus","Bardet–Biedl","Senior–Loken","ciliopathy","genome sequencing","nephronophthisis","syndrome delineation"],"metadata":{"authorlinks":{}}},"bibtype":"article","biburl":"https://bibbase.org/zotero/SOPHiAGENETICS","dataSources":["Pcpsxmwz8uxXtL843"],"keywords":["alamut visual plus","bardet–biedl","senior–loken","ciliopathy","genome sequencing","nephronophthisis","syndrome delineation"],"search_terms":["genome","sequencing","identifies","biallelic","variants","sclt1","patient","syndromic","nephronophthisis","reflections","sclt1","related","ciliopathy","spectrum","gillesse","wade","parboosingh","au","bernier","consortium","lamont","innes"],"title":"Genome sequencing identifies biallelic variants in SCLT1 in a patient with syndromic nephronophthisis: Reflections on the SCLT1-related ciliopathy spectrum","year":2024}