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Koolen‐de Vries syndrome in a 63‐year‐old woman: Report of the oldest patient and a review of the adult phenotype

Koolen‐de Vries syndrome (KdVS) is a rare genetic disorder caused by a de novo microdeletion in chromosomal region 17q21.31 encompassing KANSL1 or by a de novo intragenic pathogenic variant of KANSL1. KdVS is typically characterized by intellectual disability (ID), variable from mild to severe, deve...

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Autores principales: Farnè, Marianna, Bernardini, Laura, Capalbo, Anna, Cavarretta, Giusy, Torres, Barbara, Sanchini, Mariabeatrice, Fini, Sergio, Ferlini, Alessandra, Bigoni, Stefania
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9297928/
https://www.ncbi.nlm.nih.gov/pubmed/34665525
http://dx.doi.org/10.1002/ajmg.a.62536
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author Farnè, Marianna
Bernardini, Laura
Capalbo, Anna
Cavarretta, Giusy
Torres, Barbara
Sanchini, Mariabeatrice
Fini, Sergio
Ferlini, Alessandra
Bigoni, Stefania
author_facet Farnè, Marianna
Bernardini, Laura
Capalbo, Anna
Cavarretta, Giusy
Torres, Barbara
Sanchini, Mariabeatrice
Fini, Sergio
Ferlini, Alessandra
Bigoni, Stefania
author_sort Farnè, Marianna
collection PubMed
description Koolen‐de Vries syndrome (KdVS) is a rare genetic disorder caused by a de novo microdeletion in chromosomal region 17q21.31 encompassing KANSL1 or by a de novo intragenic pathogenic variant of KANSL1. KdVS is typically characterized by intellectual disability (ID), variable from mild to severe, developmental psychomotor delay, especially of expressive language development, friendly disposition, and multiple systemic abnormalities. So far, most of the individuals affected by KdVS are diagnosed in infancy or in adolescence; to the best of our knowledge, only 34 (including ours) adults have been reported in literature. Here we present the adult phenotype of a 63‐year‐old Italian woman affected by KdVS, caused by a 17q21.31 microdeletion. She is, to our knowledge, the oldest affected individual reported so far. We collected her clinical history and photographs, as well as those of other 26 adult patients described so far and compared her to them. We propose that the cardinal features of KdVS in adulthood are ID (ranging from mild to severe, usually moderate), friendly behavior, musculoskeletal abnormalities (especially scoliosis), and facial dysmorphism (a long face and a pronounced pear‐shape nose with bulbous overhanging nasal tip). Therefore, we suggest considering KdVS in differential diagnosis in adult patients characterized by these features.
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spelling pubmed-92979282022-07-21 Koolen‐de Vries syndrome in a 63‐year‐old woman: Report of the oldest patient and a review of the adult phenotype Farnè, Marianna Bernardini, Laura Capalbo, Anna Cavarretta, Giusy Torres, Barbara Sanchini, Mariabeatrice Fini, Sergio Ferlini, Alessandra Bigoni, Stefania Am J Med Genet A Genetic Syndromes in Adults Koolen‐de Vries syndrome (KdVS) is a rare genetic disorder caused by a de novo microdeletion in chromosomal region 17q21.31 encompassing KANSL1 or by a de novo intragenic pathogenic variant of KANSL1. KdVS is typically characterized by intellectual disability (ID), variable from mild to severe, developmental psychomotor delay, especially of expressive language development, friendly disposition, and multiple systemic abnormalities. So far, most of the individuals affected by KdVS are diagnosed in infancy or in adolescence; to the best of our knowledge, only 34 (including ours) adults have been reported in literature. Here we present the adult phenotype of a 63‐year‐old Italian woman affected by KdVS, caused by a 17q21.31 microdeletion. She is, to our knowledge, the oldest affected individual reported so far. We collected her clinical history and photographs, as well as those of other 26 adult patients described so far and compared her to them. We propose that the cardinal features of KdVS in adulthood are ID (ranging from mild to severe, usually moderate), friendly behavior, musculoskeletal abnormalities (especially scoliosis), and facial dysmorphism (a long face and a pronounced pear‐shape nose with bulbous overhanging nasal tip). Therefore, we suggest considering KdVS in differential diagnosis in adult patients characterized by these features. John Wiley & Sons, Inc. 2021-10-19 2022-02 /pmc/articles/PMC9297928/ /pubmed/34665525 http://dx.doi.org/10.1002/ajmg.a.62536 Text en © 2021 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Genetic Syndromes in Adults
Farnè, Marianna
Bernardini, Laura
Capalbo, Anna
Cavarretta, Giusy
Torres, Barbara
Sanchini, Mariabeatrice
Fini, Sergio
Ferlini, Alessandra
Bigoni, Stefania
Koolen‐de Vries syndrome in a 63‐year‐old woman: Report of the oldest patient and a review of the adult phenotype
title Koolen‐de Vries syndrome in a 63‐year‐old woman: Report of the oldest patient and a review of the adult phenotype
title_full Koolen‐de Vries syndrome in a 63‐year‐old woman: Report of the oldest patient and a review of the adult phenotype
title_fullStr Koolen‐de Vries syndrome in a 63‐year‐old woman: Report of the oldest patient and a review of the adult phenotype
title_full_unstemmed Koolen‐de Vries syndrome in a 63‐year‐old woman: Report of the oldest patient and a review of the adult phenotype
title_short Koolen‐de Vries syndrome in a 63‐year‐old woman: Report of the oldest patient and a review of the adult phenotype
title_sort koolen‐de vries syndrome in a 63‐year‐old woman: report of the oldest patient and a review of the adult phenotype
topic Genetic Syndromes in Adults
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9297928/
https://www.ncbi.nlm.nih.gov/pubmed/34665525
http://dx.doi.org/10.1002/ajmg.a.62536
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