A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome.
Eur J Med Genet
; 64(5): 104190, 2021 May.
Article
en En
| MEDLINE
| ID: mdl-33722742
ABSTRACT
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Fenotipo
/
Factores de Transcripción
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Fisura del Paladar
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Neurofibromatosis
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Proteínas de Homeodominio
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Anomalías Craneofaciales
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Agenesia del Cuerpo Calloso
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Cardiopatías Congénitas
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Discapacidades para el Aprendizaje
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Discapacidad Intelectual
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
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Adult
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Humans
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Male
Idioma:
En
Revista:
Eur J Med Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2021
Tipo del documento:
Article