Bilateral periventricular nodular heterotopia (BPNH) is the most common form of periventricular heterotopia. Mutations in FLNA, encoding filamin A, are responsible for the X linked dominant form of BPNH (FLNA-BPNH). Recently, atypical phenotypes including BPNH with Ehlers–Danlos syndrome (BPNH-EDS) have been recognised. A total of 44 FLNA mutations have so far been reported in this phenotype. Most of these mutations lead to a truncated protein, but few missense mutations have also been described. Here, the results of a mutation screening conducted in a series of 32 BPNH patients with the identification of 12 novel point mutations in 15 patients are reported. Nine mutations were truncating, while three were missense. Three additional patients with BPNH-EDS and a mutation in FLNA are described. No phenotype–genotype correlations could be established, but these clinical data sustain the importance of cardiovascular monitoring in FLNA-BPNH patients.
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▸ Additional tables are published online only at http://jnnp.bmj.com/content/vol80/issue12
GS and IC contributed equally to this work.
Funding This work was supported by GIS (projects no 04/59 and 05/46) and from the Programme Hospitalier de Recherche Clinique national no 04/07, the Institut des Maladies Rares, INSERM, the Ministère de l’Enseignement Supérieur et de la Recherche and the Ministère de la Santé. The experimental work was performed on the Plateforme Génotypage Séquençage (PGS) of Bordeaux. The PGS was constituted thanks to grants from the Conseil Régional d’Aquitaine (no 20030304002FA and no 20040305003FA) and from the FEDER (no 2003227).
Competing interests None.
Patient consent Obtained.
Provenance and Peer review Not commissioned; externally peer reviewed.