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Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies

Kabuki syndrome is a rare multiple anomalies syndrome associated with mutations in KMT2D or KDM6A. It is characterized by infantile hypotonia, developmental delay and/or intellectual disability, long palpebral fissures with everted lateral third of the lower eyelids and typical facial features. Intr...

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Autores principales: Sakaria, Rishika P., Zaveri, Parul G., Holtrop, Shannon, Zhang, Jie, Brown, Chester W., Pivnick, Eniko K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8660850/
https://www.ncbi.nlm.nih.gov/pubmed/34899850
http://dx.doi.org/10.3389/fgene.2021.766316
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author Sakaria, Rishika P.
Zaveri, Parul G.
Holtrop, Shannon
Zhang, Jie
Brown, Chester W.
Pivnick, Eniko K.
author_facet Sakaria, Rishika P.
Zaveri, Parul G.
Holtrop, Shannon
Zhang, Jie
Brown, Chester W.
Pivnick, Eniko K.
author_sort Sakaria, Rishika P.
collection PubMed
description Kabuki syndrome is a rare multiple anomalies syndrome associated with mutations in KMT2D or KDM6A. It is characterized by infantile hypotonia, developmental delay and/or intellectual disability, long palpebral fissures with everted lateral third of the lower eyelids and typical facial features. Intracranial anomalies occur infrequently in patients with KS and holoprosencephaly has only been recently described. Additionally, though congenital heart diseases are common in patients with KS, to our knowledge truncus arteriosus has never been reported in a patient with KS. We present an unusual case of KS in an infant with holoprosencephaly and truncus arteriosus with partial anomalous pulmonary venous return. Duo whole exome sequencing in our patient identified a pathogenic nonsense variant in exon 10 of KMT2D (c.2782C > T; p. Gln928*) establishing the diagnosis. This report further expands the phenotypic spectrum of patients with Kabuki syndrome and emphasizes the utility of performing large scale sequencing in neonates with multiple congenital anomalies.
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spelling pubmed-86608502021-12-11 Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies Sakaria, Rishika P. Zaveri, Parul G. Holtrop, Shannon Zhang, Jie Brown, Chester W. Pivnick, Eniko K. Front Genet Genetics Kabuki syndrome is a rare multiple anomalies syndrome associated with mutations in KMT2D or KDM6A. It is characterized by infantile hypotonia, developmental delay and/or intellectual disability, long palpebral fissures with everted lateral third of the lower eyelids and typical facial features. Intracranial anomalies occur infrequently in patients with KS and holoprosencephaly has only been recently described. Additionally, though congenital heart diseases are common in patients with KS, to our knowledge truncus arteriosus has never been reported in a patient with KS. We present an unusual case of KS in an infant with holoprosencephaly and truncus arteriosus with partial anomalous pulmonary venous return. Duo whole exome sequencing in our patient identified a pathogenic nonsense variant in exon 10 of KMT2D (c.2782C > T; p. Gln928*) establishing the diagnosis. This report further expands the phenotypic spectrum of patients with Kabuki syndrome and emphasizes the utility of performing large scale sequencing in neonates with multiple congenital anomalies. Frontiers Media S.A. 2021-11-25 /pmc/articles/PMC8660850/ /pubmed/34899850 http://dx.doi.org/10.3389/fgene.2021.766316 Text en Copyright © 2021 Sakaria, Zaveri, Holtrop, Zhang, Brown and Pivnick. 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 Genetics
Sakaria, Rishika P.
Zaveri, Parul G.
Holtrop, Shannon
Zhang, Jie
Brown, Chester W.
Pivnick, Eniko K.
Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies
title Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies
title_full Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies
title_fullStr Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies
title_full_unstemmed Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies
title_short Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies
title_sort case report: an infant with kabuki syndrome, alobar holoprosencephaly and truncus arteriosus: a case for whole exome sequencing in neonates with congenital anomalies
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8660850/
https://www.ncbi.nlm.nih.gov/pubmed/34899850
http://dx.doi.org/10.3389/fgene.2021.766316
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