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Titolo:
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females
Autore:
Sheen, VL; Dixon, PH; Fox, JW; Hong, SE; Kinton, L; Sisodiya, SM; Duncan, JS; Dubeau, F; Scheffer, IE; Schachter, SC; Wilner, A; Henchy, R; Crino, P; Kamuro, K; DiMario, F; Berg, M; Kuzniecky, R; Cole, AJ; Bromfield, E; Biber, M; Schomer, D; Wheless, J; Silver, K; Mochida, GH; Berkovic, SF; Andermann, F; Andermann, E; Dobyns, WB; Wood, NW; Walsh, CA;
Indirizzi:
Beth Israel Deaconess Med Ctr, Dept Neurol, Boston, MA 02115 USA Beth Israel Deaconess Med Ctr Boston MA USA 02115 l, Boston, MA 02115 USA Harvard Univ, Sch Med, Boston, MA 02115 USA Harvard Univ Boston MA USA 02115 vard Univ, Sch Med, Boston, MA 02115 USA Univ Coll London, Inst Neurol, Dept Clin Neurol, Neurogenet Unit, London WC1N 3BG, England Univ Coll London London England WC1N 3BG Unit, London WC1N 3BG, England Harvard Univ, Sch Med, Program Biol & Biomed Sci, Boston, MA 02115 USA Harvard Univ Boston MA USA 02115 Biol & Biomed Sci, Boston, MA 02115 USA Univ Coll London, Inst Neurol, Dept Clin Neurol, Epilepsy Grp, London WC1N3BG, England Univ Coll London London England WC1N 3BG sy Grp, London WC1N3BG, England McGill Univ, Montreal Neurol Inst, Dept Neurogenet, Montreal, PQ, Canada McGill Univ Montreal PQ Canada st, Dept Neurogenet, Montreal, PQ, Canada McGill Univ, Montreal Neurol Inst, Epilepsy Serv, Montreal, PQ, Canada McGill Univ Montreal PQ Canada Inst, Epilepsy Serv, Montreal, PQ, Canada Univ Melbourne, Austin & Repatriat Med Ctr, Dept Neurol, Melbourne, Vic, Australia Univ Melbourne Melbourne Vic Australia Neurol, Melbourne, Vic, Australia Med Clin, Dept Neurol, Pensacola, FL USA Med Clin Pensacola FL USAMed Clin, Dept Neurol, Pensacola, FL USA Univ Penn, Dept Neurol, Philadelphia, PA 19104 USA Univ Penn PhiladelphiaPA USA 19104 pt Neurol, Philadelphia, PA 19104 USA Kokubu Seikyo Hosp, Dept Pediat, Kagoshima, Japan Kokubu Seikyo Hosp Kagoshima Japan Hosp, Dept Pediat, Kagoshima, Japan Univ Connecticut, Dept Pediat, Farmington, CT USA Univ Connecticut Farmington CT USA icut, Dept Pediat, Farmington, CT USA Univ Rochester, Dept Neurol, Rochester, NY USA Univ Rochester Rochester NY USA ochester, Dept Neurol, Rochester, NY USA Univ Alabama, Dept Neurol, Birmingham, AL 35294 USA Univ Alabama Birmingham AL USA 35294 ept Neurol, Birmingham, AL 35294 USA Massachusetts Gen Hosp, Epilepsy Serv, Boston, MA 02114 USA Massachusetts Gen Hosp Boston MA USA 02114 psy Serv, Boston, MA 02114 USA Brigham & Womens Hosp, Dept Neurol, Boston, MA 02115 USA Brigham & Womens Hosp Boston MA USA 02115 pt Neurol, Boston, MA 02115 USA Univ Texas, Dept Pediat Neurol, Houston, TX USA Univ Texas Houston TX USA niv Texas, Dept Pediat Neurol, Houston, TX USA Loyola Univ, Med Ctr, Dept Pediat Neurol, Chicago, IL 60611 USA Loyola Univ Chicago IL USA 60611 ept Pediat Neurol, Chicago, IL 60611 USA Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA Massachusetts Gen Hosp Boston MA USA 02114 t Neurol, Boston, MA 02114 USA Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA Univ Chicago Chicago IL USA 60637 Dept Human Genet, Chicago, IL 60637 USA
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 17, volume: 10, anno: 2001,
pagine: 1775 - 1783
SICI:
0964-6906(20010815)10:17<1775:MITXF1>2.0.ZU;2-R
Fonte:
ISI
Lingua:
ENG
Soggetto:
ACTIN-BINDING PROTEIN; DOUBLE CORTEX SYNDROME; TUBEROUS SCLEROSIS; TARGETS FILAMIN; MIGRATION; EPILEPSY; IDENTIFICATION; MACROPHAGES; MOSAICISM; DOMAIN;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
31
Recensione:
Indirizzi per estratti:
Indirizzo: Walsh, CA Harvard Inst Med, Room 816,77 Ave Louis Pasteur, Boston, MA 02115 USA Harvard Inst Med Room 816,77 Ave Louis Pasteur Boston MA USA 02115
Citazione:
V.L. Sheen et al., "Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females", HUM MOL GEN, 10(17), 2001, pp. 1775-1783

Abstract

Periventricular heterotopia (PH) is a human neuronal migration disorder inwhich many neurons destined for the cerebral cortex fall to migrate. Previous analysis showed heterozygous mutations in the X-linked gene filamin 1 (FLN1), but examined only the first six (of 48) coding exons of the gene andhence did not assess the incidence and functional consequences of FLN1 mutations. Here we perform single-strand conformation polymorphism (SSCP) analysis of FLN1 throughout its entire coding region in six PH pedigrees, 31 sporadic female PH patients and 24 sporadic male PH patients. We detected FLN1 mutations by SSCP in 83% of PH pedigrees and 19% of sporadic females withPH. Moreover, no PH females (0/7 tested) with atypical radiographic features showed FLN1 mutations, suggesting that other genes may cause atypical PH. Surprisingly, 2/24 males analyzed with PH (9%) also carried FLN1 mutations. Whereas FLN1 mutations in PH pedigrees caused severe predicted loss of FLN1 protein function, both male FLN1 mutations were consistent with partialloss of function of the protein. Moreover, sporadic female FLN1 mutations associated with PH appear to cause either severe or partial loss of function. Neither male could be shown to be mosaic for the FLN1 mutation in peripheral blood lymphocytes, suggesting that some neurons in the intact cortex of PH males may be mutant for FLN1 but migrate adequately. These results demonstrate the sensitivity and specificity of DNA testing for FLN1 mutations and have important functional implications for models of FLN1 protein function in neuronal migration.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/10/20 alle ore 21:36:13