Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations
Journal of Neurology, Neurosurgery & Psychiatry. 2009-11-16; 80(12): 1394-1398
DOI: 10.1136/JNNP.2008.162263
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1. J Neurol Neurosurg Psychiatry. 2009 Dec;80(12):1394-8. doi:
10.1136/jnnp.2008.162263.
Bilateral periventricular nodular heterotopia in France: frequency of mutations
in FLNA, phenotypic heterogeneity and spectrum of mutations.
Solé G(1), Coupry I, Rooryck C, Guérineau E, Martins F, Devés S, Hubert C,
Souakri N, Boute O, Marchal C, Faivre L, Landré E, Debruxelles S, Dieux-Coeslier
A, Boulay C, Chassagnon S, Michel V, Routon MC, Toutain A, Philip N, Lacombe D,
Villard L, Arveiler B, Goizet C.
Author information:
(1)Laboratoire de Génétique Humaine, Université Victor Segalen Bordeaux 2, 33076
Bordeaux cedex, France.
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.
DOI: 10.1136/jnnp.2008.162263
PMID: 19917821 [Indexed for MEDLINE]