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.
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},
}
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