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Tytuł pozycji:

A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome.

Tytuł:
A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome.
Autorzy:
Santoro C; Departments of Physical and Mental Health, and Preventive Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy; Women, Children, and General and Specialized Surgery, University of Campania 'Luigi Vanvitelli', Naples, Italy. Electronic address: .
Riccio S; Women, Children, and General and Specialized Surgery, University of Campania 'Luigi Vanvitelli', Naples, Italy.
Palladino F; Women, Children, and General and Specialized Surgery, University of Campania 'Luigi Vanvitelli', Naples, Italy.
Aliberti F; Department of Neurosciences, Pediatric Hospital Santobono-Pausilipon, Naples, Italy.
Carotenuto M; Departments of Physical and Mental Health, and Preventive Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.
Zanobio M; Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.
Peduto C; Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.
Nigro V; Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.
Perrotta S; Women, Children, and General and Specialized Surgery, University of Campania 'Luigi Vanvitelli', Naples, Italy.
Piluso G; Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy. Electronic address: .
Źródło:
European journal of medical genetics [Eur J Med Genet] 2021 May; Vol. 64 (5), pp. 104190. Date of Electronic Publication: 2021 Mar 17.
Typ publikacji:
Case Reports; Journal Article
Język:
English
Imprint Name(s):
Original Publication: Amsterdam : Elsevier, c2005-
MeSH Terms:
Phenotype*
Agenesis of Corpus Callosum/*genetics
Cleft Palate/*genetics
Craniofacial Abnormalities/*complications
Heart Defects, Congenital/*genetics
Homeodomain Proteins/*genetics
Intellectual Disability/*complications
Learning Disabilities/*complications
Neurofibromatoses/*complications
Transcription Factors/*genetics
Adolescent ; Adult ; Agenesis of Corpus Callosum/complications ; Agenesis of Corpus Callosum/pathology ; Chromosome Deletion ; Chromosomes, Human, Pair 17/genetics ; Cleft Palate/complications ; Cleft Palate/pathology ; Craniofacial Abnormalities/genetics ; Craniofacial Abnormalities/pathology ; Heart Defects, Congenital/complications ; Heart Defects, Congenital/pathology ; Humans ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Learning Disabilities/genetics ; Learning Disabilities/pathology ; Male ; Neurofibromatoses/genetics ; Neurofibromatoses/pathology
Contributed Indexing:
Keywords: 17q11.2 microdeletion; Concurrent genetic disorders; Exome sequencing; MEIS2, bicoronal craniosynostosis; NF1
Substance Nomenclature:
0 (Homeodomain Proteins)
0 (MEIS2 protein, human)
0 (Transcription Factors)
SCR Disease Name:
NF1 Microdeletion Syndrome
Entry Date(s):
Date Created: 20210316 Date Completed: 20210803 Latest Revision: 20210803
Update Code:
20240104
DOI:
10.1016/j.ejmg.2021.104190
PMID:
33722742
Czasopismo naukowe
Concurrence of distinct genetic conditions in the same patient is not rare. Several cases involving neurofibromatosis type 1 (NF1) have recently been reported, indicating the need for more extensive molecular analysis when phenotypic features cannot be explained by a single gene mutation. Here, we describe the clinical presentation of a boy with a typical NF1 microdeletion syndrome complicated by cleft palate and other dysmorphic features, hypoplasia of corpus callosum, and partial bicoronal craniosynostosis caused by a novel 2bp deletion in exon 2 of Meis homeobox 2 gene (MEIS2) inherited from the mildly affected father. This is only the second case of an inherited MEIS2 intragenic mutation reported to date. MEIS2 is known to be associated with cleft palate, intellectual disability, heart defects, and dysmorphic features. Our clinical report suggests that this gene may also have a role in cranial morphogenesis in humans, as previously observed in animal models.
(Copyright © 2021 Elsevier Masson SAS. All rights reserved.)

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