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Hereditary Cerebral Hemorrhage with Amyloidosis-Dutch type (HCHWA-D) is an autosomal dominant cerebral amyloid angiopathy caused by a point mutation in exon 17 of the APP gene. A hiPSC line generated from a symptomatic HCHWA-D patient carries the Dutch mutation, retains normal karyotype and pluripotency marker expression, and can differentiate into all three germ layers in vitro (PMID:30611017). No additional segregation or family studies have been reported to date, and direct assays of vascular amyloid deposition in this model are pending.
Key Take-home: Screening for the APP Dutch variant enables definitive diagnosis and familial counseling in suspected cases of cerebral amyloid angiopathy.
Gene–Disease AssociationLimitedSingle proband with Dutch APP mutation and hiPSC derivation; no segregation data ([PMID:30611017]) Genetic EvidenceLimitedOne proband harboring the exon 17 Dutch variant; no additional families or segregation studies provided ([PMID:30611017]) Functional EvidenceLimitedhiPSC model confirms mutation carriage, pluripotency and differentiation but lacks direct vascular amyloid assays ([PMID:30611017]) |