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Case report: A study on the de novo KMT2D variant of Kabuki syndrome with Goodpasture’s syndrome by whole exome sequencing

Kabuki syndrome (KS) is a rare genetic disorder characterized by dysmorphic facial features, skeletal abnormalities, and intellectual disability. KMT2D and KDM6A were identified as the main causative genes. To our knowledge, there exist no cases of KS, which were reported with pneumorrhagia. In this...

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Autores principales: Li, Shuolin, Liu, Jing, Yuan, Yuan, Lu, Aizhen, Liu, Fang, Sun, Li, Shen, Quanli, Wang, Libo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9459111/
https://www.ncbi.nlm.nih.gov/pubmed/36090579
http://dx.doi.org/10.3389/fped.2022.933693
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author Li, Shuolin
Liu, Jing
Yuan, Yuan
Lu, Aizhen
Liu, Fang
Sun, Li
Shen, Quanli
Wang, Libo
author_facet Li, Shuolin
Liu, Jing
Yuan, Yuan
Lu, Aizhen
Liu, Fang
Sun, Li
Shen, Quanli
Wang, Libo
author_sort Li, Shuolin
collection PubMed
description Kabuki syndrome (KS) is a rare genetic disorder characterized by dysmorphic facial features, skeletal abnormalities, and intellectual disability. KMT2D and KDM6A were identified as the main causative genes. To our knowledge, there exist no cases of KS, which were reported with pneumorrhagia. In this study, a 10-month-old male was diagnosed to have KS with typical facial features, skeletal anomalies, and serious postnatal growth retardation. Whole exome sequencing of the trio family revealed the presence of a de novo KMT2D missense variant (c.15143G > A, p. R5048H). The child was presented to the pediatric emergency department several times because of cough, hypoxemia, and anemia. After performing chest CT and fiberoptic bronchoscopy, we found that the child had a pulmonary hemorrhage. During research on the cause of pulmonary hemorrhage, the patient’s anti-GBM antibodies gradually became positive, and the urine microalbumin level was elevated at the age of 12-month-old. After glucocorticoids and immunosuppressant therapy, the patient became much better. But he had recurrent pulmonary hemorrhage at the age of 16 months. Therefore, the patient underwent digital subtraction angiography (DSA). However, the DSA showed three abnormal bronchial arteries. This single case expands the phenotypes of patients with KS and Goodpasture’s syndrome, which were found to have a de novo KMT2D missense variant.
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spelling pubmed-94591112022-09-10 Case report: A study on the de novo KMT2D variant of Kabuki syndrome with Goodpasture’s syndrome by whole exome sequencing Li, Shuolin Liu, Jing Yuan, Yuan Lu, Aizhen Liu, Fang Sun, Li Shen, Quanli Wang, Libo Front Pediatr Pediatrics Kabuki syndrome (KS) is a rare genetic disorder characterized by dysmorphic facial features, skeletal abnormalities, and intellectual disability. KMT2D and KDM6A were identified as the main causative genes. To our knowledge, there exist no cases of KS, which were reported with pneumorrhagia. In this study, a 10-month-old male was diagnosed to have KS with typical facial features, skeletal anomalies, and serious postnatal growth retardation. Whole exome sequencing of the trio family revealed the presence of a de novo KMT2D missense variant (c.15143G > A, p. R5048H). The child was presented to the pediatric emergency department several times because of cough, hypoxemia, and anemia. After performing chest CT and fiberoptic bronchoscopy, we found that the child had a pulmonary hemorrhage. During research on the cause of pulmonary hemorrhage, the patient’s anti-GBM antibodies gradually became positive, and the urine microalbumin level was elevated at the age of 12-month-old. After glucocorticoids and immunosuppressant therapy, the patient became much better. But he had recurrent pulmonary hemorrhage at the age of 16 months. Therefore, the patient underwent digital subtraction angiography (DSA). However, the DSA showed three abnormal bronchial arteries. This single case expands the phenotypes of patients with KS and Goodpasture’s syndrome, which were found to have a de novo KMT2D missense variant. Frontiers Media S.A. 2022-08-26 /pmc/articles/PMC9459111/ /pubmed/36090579 http://dx.doi.org/10.3389/fped.2022.933693 Text en Copyright © 2022 Li, Liu, Yuan, Lu, Liu, Sun, Shen and Wang. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Li, Shuolin
Liu, Jing
Yuan, Yuan
Lu, Aizhen
Liu, Fang
Sun, Li
Shen, Quanli
Wang, Libo
Case report: A study on the de novo KMT2D variant of Kabuki syndrome with Goodpasture’s syndrome by whole exome sequencing
title Case report: A study on the de novo KMT2D variant of Kabuki syndrome with Goodpasture’s syndrome by whole exome sequencing
title_full Case report: A study on the de novo KMT2D variant of Kabuki syndrome with Goodpasture’s syndrome by whole exome sequencing
title_fullStr Case report: A study on the de novo KMT2D variant of Kabuki syndrome with Goodpasture’s syndrome by whole exome sequencing
title_full_unstemmed Case report: A study on the de novo KMT2D variant of Kabuki syndrome with Goodpasture’s syndrome by whole exome sequencing
title_short Case report: A study on the de novo KMT2D variant of Kabuki syndrome with Goodpasture’s syndrome by whole exome sequencing
title_sort case report: a study on the de novo kmt2d variant of kabuki syndrome with goodpasture’s syndrome by whole exome sequencing
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9459111/
https://www.ncbi.nlm.nih.gov/pubmed/36090579
http://dx.doi.org/10.3389/fped.2022.933693
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