title: FLNA p.V528M substitution is neither associated with bilateral periventricular nodular heterotopia nor with macrothrombocytopenia.
abstract: Filamin A is encoded by the FLNA gene on chromosome Xq28 and functions in cross-linking actin filaments into orthogonal networks in the cortical cytoplasm. FLNA p.V528M was initially detected in a female autopsy case of X-linked bilateral periventricular nodular heterotopia (BPNH), a neuronal migration disorder characterized by subependymal nodules of gray matter. During our mutation analysis of FLNA in a boy with apparent X-linked thrombocytopenia, we detected the p.V528M variant. The patient, mother and sister, who were heterozygous for the substitution, did not have BPNH. We observed an allele frequency of 4.8% in healthy control Japanese, but did not observe the variant in Caucasian subjects. Hemizygous controls had a normal platelet count and size. We suggest that p.V528M is neither associated with BPNH nor with thrombocytopenia and giant platelets, and represents a functional polymorphism.
authors.affiliation: Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, 4-1-1 Sannomaru, Nagoya, Japan. kunishis@nnh.hosp.go.jp
authors.forename: Shinji
authors.initials: S
authors.lastname: Kunishima
authors.forename: Yoshimi
authors.initials: Y
authors.lastname: Ito-Yamamura
authors.forename: Akira
authors.initials: A
authors.lastname: Hayakawa
authors.forename: Toshimichi
authors.initials: T
authors.lastname: Yamamoto
authors.forename: Hidehiko
authors.initials: H
authors.lastname: Saito
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D001606:Bernard-Soulier Syndrome / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003285:Contractile Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D064448:Filamins; D005787:Gene Frequency; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics*; D010375:Pedigree; D054091:Periventricular Nodular Heterotopia / Q000235:genetics*; D013921:Thrombocytopenia / Q000235:genetics*
chemical_list: D003285:Contractile Proteins; D064448:Filamins; D008840:Microfilament Proteins