MAP1B related syndrome: Case presentation and review of literature

The microtubule‐associated protein 1B (MAP1B) gene serves an important role in axonal growth and brain development. Its expression is known to be elevated in regions that retain high brain plasticity and is regulated by the fragile X mental retardation protein. MAP1B mutations have recently been ass...

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Bibliographic Details
Published in:	American journal of medical genetics. Part A Vol. 179; no. 9; pp. 1703 - 1708
Main Authors:	Julca, Diana M., Diaz, Jullianne, Berger, Seth, Leon, Eyby
Format:	Journal Article
Language:	English
Published:	Hoboken, USA John Wiley & Sons, Inc 01-09-2019 Wiley Subscription Services, Inc
Subjects:	Alcohol use Axonal plasticity Corpus callosum Cortex dysmorphic Fragile X syndrome Genotype & phenotype Intellectual disabilities intellectual disability Magnetic resonance imaging MAP1B Microcephaly Microtubule-associated protein 1 Mutation Neurodevelopmental disorders Phenotypes Prenatal experience PVNH Seizures Ventricle (lateral) WES WES PVNH MAP1B intellectual disability dysmorphic
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Summary:	The microtubule‐associated protein 1B (MAP1B) gene serves an important role in axonal growth and brain development. Its expression is known to be elevated in regions that retain high brain plasticity and is regulated by the fragile X mental retardation protein. MAP1B mutations have recently been associated with a phenotype including periventricular nodular heterotopia (PVNH), intellectual disability (ID), seizures, and dysmorphic features. We describe a child presenting with global developmental delays, ID, microcephaly, short stature, seizures, dysmorphic features, and prenatal alcohol exposure with a de novo nonsense MAP1B mutation (c.2035G>T, p.Glu679X) detected on whole exome sequencing (WES). His brain MRI showed PVNH and dysgenesis of the corpus callosum. While significant prenatal alcohol exposure could have modified his phenotype, we believe that this patient presents with features that cannot be explained by fetal alcohol exposure alone. This is the first case report that describes dysmorphic features associated with MAP1B mutations in detail along with supporting pictures and review of previous reported phenotypes. This case not only highlights the value of WES as a screening tool for unrecognized syndromes, but also supports the need for a better description of the phenotype associated with newly detected genetic syndromes by molecular screening.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	1552-4825 1552-4833
DOI:	10.1002/ajmg.a.61280