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:	Rishika P. Sakaria, Parul G. Zaveri, Shannon Holtrop, Jie Zhang, Chester W. Brown, Eniko K. Pivnick
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	KMT2D kabuki syndrome (KS) holoprosencephaly (HPE) congenital anomalies truncus PAPVR Genetics QH426-470
Acceso en línea:	https://doaj.org/article/3611b586fd554653adde02332196254a
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spelling	oai:doaj.org-article:3611b586fd554653adde02332196254a2021-12-01T03:03:06ZCase Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies1664-802110.3389/fgene.2021.766316https://doaj.org/article/3611b586fd554653adde02332196254a2021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fgene.2021.766316/fullhttps://doaj.org/toc/1664-8021Kabuki 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.Rishika P. SakariaRishika P. SakariaParul G. ZaveriParul G. ZaveriShannon HoltropJie ZhangJie ZhangChester W. BrownChester W. BrownEniko K. PivnickEniko K. PivnickFrontiers Media S.A.articleKMT2Dkabuki syndrome (KS)holoprosencephaly (HPE)congenital anomaliestruncusPAPVRGeneticsQH426-470ENFrontiers in Genetics, Vol 12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	KMT2D kabuki syndrome (KS) holoprosencephaly (HPE) congenital anomalies truncus PAPVR Genetics QH426-470
spellingShingle	KMT2D kabuki syndrome (KS) holoprosencephaly (HPE) congenital anomalies truncus PAPVR Genetics QH426-470 Rishika P. Sakaria Rishika P. Sakaria Parul G. Zaveri Parul G. Zaveri Shannon Holtrop Jie Zhang Jie Zhang Chester W. Brown Chester W. Brown Eniko K. Pivnick Eniko K. Pivnick Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies
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.
format	article
author	Rishika P. Sakaria Rishika P. Sakaria Parul G. Zaveri Parul G. Zaveri Shannon Holtrop Jie Zhang Jie Zhang Chester W. Brown Chester W. Brown Eniko K. Pivnick Eniko K. Pivnick
author_facet	Rishika P. Sakaria Rishika P. Sakaria Parul G. Zaveri Parul G. Zaveri Shannon Holtrop Jie Zhang Jie Zhang Chester W. Brown Chester W. Brown Eniko K. Pivnick Eniko K. Pivnick
author_sort	Rishika P. Sakaria
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_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_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_sort	case report: an infant with kabuki syndrome, alobar holoprosencephaly and truncus arteriosus: a case for whole exome sequencing in neonates with congenital anomalies
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/3611b586fd554653adde02332196254a
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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

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