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Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature

Kabuki syndrome (KS) is a well-recognized disorder characterized by postnatal growth deficiency, dysmorphic facial features, skeletal anomalies, and intellectual disability. The syndrome is caused by KMT2D gene mutations or less frequently KDM6A gene mutations or deletions. We report a systematic ev...

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Autores principales: Di Candia, Francesca, Fontana, Paolo, Paglia, Pamela, Falco, Mariateresa, Rosano, Carmen, Piscopo, Carmelo, Cappuccio, Gerarda, Siano, Maria Anna, De Brasi, Daniele, Mandato, Claudia, De Maggio, Ilaria, Squeo, Gabriella Maria, Monica, Matteo Della, Scarano, Gioacchino, Lonardo, Fortunato, Strisciuglio, Pietro, Merla, Giuseppe, Melis, Daniela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8760211/
https://www.ncbi.nlm.nih.gov/pubmed/34232366
http://dx.doi.org/10.1007/s00431-021-04108-w
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author Di Candia, Francesca
Fontana, Paolo
Paglia, Pamela
Falco, Mariateresa
Rosano, Carmen
Piscopo, Carmelo
Cappuccio, Gerarda
Siano, Maria Anna
De Brasi, Daniele
Mandato, Claudia
De Maggio, Ilaria
Squeo, Gabriella Maria
Monica, Matteo Della
Scarano, Gioacchino
Lonardo, Fortunato
Strisciuglio, Pietro
Merla, Giuseppe
Melis, Daniela
author_facet Di Candia, Francesca
Fontana, Paolo
Paglia, Pamela
Falco, Mariateresa
Rosano, Carmen
Piscopo, Carmelo
Cappuccio, Gerarda
Siano, Maria Anna
De Brasi, Daniele
Mandato, Claudia
De Maggio, Ilaria
Squeo, Gabriella Maria
Monica, Matteo Della
Scarano, Gioacchino
Lonardo, Fortunato
Strisciuglio, Pietro
Merla, Giuseppe
Melis, Daniela
author_sort Di Candia, Francesca
collection PubMed
description Kabuki syndrome (KS) is a well-recognized disorder characterized by postnatal growth deficiency, dysmorphic facial features, skeletal anomalies, and intellectual disability. The syndrome is caused by KMT2D gene mutations or less frequently KDM6A gene mutations or deletions. We report a systematic evaluation of KS patients from Campania region of Italy; data were also compared with literature ones. We collected data of 15 subjects (8 males and 7 females with age range 10–26 years; mean age 16.9 years) with confirmed diagnosis of KS, representing the entire cohort of patients from Campania Region. Each patient performed biochemical testing and instrumental investigation. Neuro-intellectual development, cranio-facial dysmorphisms, and multisystem involvement data were collected retrospectively. For each category, type of defects and frequency of the anomalies were analyzed. Our observation shows that KS patients from Campania region have some particular and previously underscored, neurological and immunological findings. We found high prevalence of EEG’s abnormalities (43%) and MRI brain abnormalities (60%). Microcephaly resulted more common in our series (33%), if compared with major cohorts described in literature. Biochemical features of immunodeficiency and autoimmune diseases including thyroid autoimmunity, polyserositis, and vitiligo were observed with high prevalence (54.5%). Low immunoglobulins levels were a frequent finding. Lymphocyte class investigation showed significantly reduced CD8 levels in one patient. Conclusions: These data confirm great heterogeneity of clinical manifestations in KS and suggest to introduce further clinical diagnostic criteria in order to perform a correct and precocious diagnosis. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s00431-021-04108-w.
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spelling pubmed-87602112022-01-26 Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature Di Candia, Francesca Fontana, Paolo Paglia, Pamela Falco, Mariateresa Rosano, Carmen Piscopo, Carmelo Cappuccio, Gerarda Siano, Maria Anna De Brasi, Daniele Mandato, Claudia De Maggio, Ilaria Squeo, Gabriella Maria Monica, Matteo Della Scarano, Gioacchino Lonardo, Fortunato Strisciuglio, Pietro Merla, Giuseppe Melis, Daniela Eur J Pediatr Original Article Kabuki syndrome (KS) is a well-recognized disorder characterized by postnatal growth deficiency, dysmorphic facial features, skeletal anomalies, and intellectual disability. The syndrome is caused by KMT2D gene mutations or less frequently KDM6A gene mutations or deletions. We report a systematic evaluation of KS patients from Campania region of Italy; data were also compared with literature ones. We collected data of 15 subjects (8 males and 7 females with age range 10–26 years; mean age 16.9 years) with confirmed diagnosis of KS, representing the entire cohort of patients from Campania Region. Each patient performed biochemical testing and instrumental investigation. Neuro-intellectual development, cranio-facial dysmorphisms, and multisystem involvement data were collected retrospectively. For each category, type of defects and frequency of the anomalies were analyzed. Our observation shows that KS patients from Campania region have some particular and previously underscored, neurological and immunological findings. We found high prevalence of EEG’s abnormalities (43%) and MRI brain abnormalities (60%). Microcephaly resulted more common in our series (33%), if compared with major cohorts described in literature. Biochemical features of immunodeficiency and autoimmune diseases including thyroid autoimmunity, polyserositis, and vitiligo were observed with high prevalence (54.5%). Low immunoglobulins levels were a frequent finding. Lymphocyte class investigation showed significantly reduced CD8 levels in one patient. Conclusions: These data confirm great heterogeneity of clinical manifestations in KS and suggest to introduce further clinical diagnostic criteria in order to perform a correct and precocious diagnosis. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s00431-021-04108-w. Springer Berlin Heidelberg 2021-07-07 2022 /pmc/articles/PMC8760211/ /pubmed/34232366 http://dx.doi.org/10.1007/s00431-021-04108-w Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Original Article
Di Candia, Francesca
Fontana, Paolo
Paglia, Pamela
Falco, Mariateresa
Rosano, Carmen
Piscopo, Carmelo
Cappuccio, Gerarda
Siano, Maria Anna
De Brasi, Daniele
Mandato, Claudia
De Maggio, Ilaria
Squeo, Gabriella Maria
Monica, Matteo Della
Scarano, Gioacchino
Lonardo, Fortunato
Strisciuglio, Pietro
Merla, Giuseppe
Melis, Daniela
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature
title Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature
title_full Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature
title_fullStr Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature
title_full_unstemmed Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature
title_short Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature
title_sort clinical heterogeneity of kabuki syndrome in a cohort of italian patients and review of the literature
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8760211/
https://www.ncbi.nlm.nih.gov/pubmed/34232366
http://dx.doi.org/10.1007/s00431-021-04108-w
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