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Truncating mutations in APP cause a distinct neurological phenotype.

ABSTRACT: Dominant missense mutations in the amyloid ? (A?) precursor protein (APP) gene have been implicated in early onset Alzheimer disease. These mutations alter protein structure to favor the pathologic production of A?. We report that homozygous nonsense mutations in APP are associated with decreased somatic growth, microcephaly, hypotonia, developmental delay, thinning of the corpus callosum, and seizures. We compare the phenotype of this case to those reported in mouse models and demonstrate multiple similarities, strengthening the role of amyloid precursor protein in normal brain function and development. Ann Neurol 2016;80:456-460.

SUBMITTER: Klein S 

PROVIDER: S-EPMC7034636 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature

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Truncating mutations in APP cause a distinct neurological phenotype.

Klein Steven S   Goldman Alexander A   Lee Hane H   Ghahremani Shahnaz S   Bhakta Viraj V   Nelson Stanley F SF   Martinez-Agosto Julian A JA  

Annals of neurology 20160804 3

Dominant missense mutations in the amyloid β (Aβ) precursor protein (APP) gene have been implicated in early onset Alzheimer disease. These mutations alter protein structure to favor the pathologic production of Aβ. We report that homozygous nonsense mutations in APP are associated with decreased somatic growth, microcephaly, hypotonia, developmental delay, thinning of the corpus callosum, and seizures. We compare the phenotype of this case to those reported in mouse models and demonstrate multi  ...[more]

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