Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.

TitleFamilial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.
Publication TypeJournal Article
Year of Publication2015
AuthorsParrini, Elena, Mei Davide, Pisanti Maria Antonietta, Catarzi Serena, Pucatti Daniela, Bianchini Claudia, Mascalchi Mario, Bertini Enrico, Morrone Amelia, Cavaliere Maria Luigia, and Guerrini Renzo
JournalJournal of medical genetics
Volume52
Issue6
Pagination405-12
Date Published2015 Jun
Abstract

Loss-of-function mutations of the FLNA gene cause a neuronal migration disorder defined as X-linked periventricular nodular heterotopia (PNH); gain-of-function mutations are associated with a group of X-linked skeletal dysplasias designed as otopalatodigital (OPD) spectrum. We describe a family in which a woman and her three daughters exhibited a complex phenotype combining PNH, epilepsy and Melnick-Needles syndrome (MNS), a skeletal disorder assigned to the OPD spectrum. All four individuals harboured a novel non-conservative missense mutation in FLNA exon 3.

DOI10.1016/j.yebeh.2015.06.019
PubMed Link

http://www.ncbi.nlm.nih.gov/pubmed/25755106?dopt=Abstract

Alternate JournalJ. Med. Genet.