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Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.
Masliah-Planchon, Julien; Dupont, Céline; Vartzelis, George; Trimouille, Aurélien; Eymard-Pierre, Eléonore; Gay-Bellile, Mathilde; Renaldo, Florence; Dorboz, Imen; Pagan, Cécile; Quentin, Samuel; Elmaleh, Monique; Kotsogianni, Christina; Konstantelou, Elissavet; Drunat, Séverine; Tabet, Anne-Claude; Boespflug-Tanguy, Odile.
Affiliation
  • Masliah-Planchon J; UF de Génétique moléculaire, Hôpital Robert Debré, AP-HP, Paris, France. julien.masliah@gmail.com.
  • Dupont C; Inserm U1141, Université Paris Diderot, Sorbonne Paris Cité, Hôpital Robert Debré, Paris, France. julien.masliah@gmail.com.
  • Vartzelis G; New adresse: Unité de Génétique Somatique, Institut Curie, Paris, France. julien.masliah@gmail.com.
  • Trimouille A; UF de Cytogénétique, Hôpital Robert Debré, AP-HP, Paris, France. celine.dupont@jvr.aphp.fr.
  • Eymard-Pierre E; Paediatric Neurology, P&A Kyriakou Paed. Hospital, Athens Medical School, Athens, Greece. vartzelis@gmail.com.
  • Gay-Bellile M; UF de Génétique moléculaire, Hôpital Robert Debré, AP-HP, Paris, France. yayatrimouille@hotmail.com.
  • Renaldo F; Inserm U1141, Université Paris Diderot, Sorbonne Paris Cité, Hôpital Robert Debré, Paris, France. yayatrimouille@hotmail.com.
  • Dorboz I; Cytogénétique Médicale, Univ Clermont1, UFR Médecine, CHU Estaing, Clermont-Ferrand, France. e_pierre@chu-clermontferrand.fr.
  • Pagan C; ERTICa, EA 4677, Univ Clermont1, UFR Médecine, Clermont-Ferrand, France. e_pierre@chu-clermontferrand.fr.
  • Quentin S; Cytogénétique Médicale, Univ Clermont1, UFR Médecine, CHU Estaing, Clermont-Ferrand, France. mgay-bellile@chu-clermontferrand.fr.
  • Elmaleh M; ERTICa, EA 4677, Univ Clermont1, UFR Médecine, Clermont-Ferrand, France. mgay-bellile@chu-clermontferrand.fr.
  • Kotsogianni C; Inserm U1141, Université Paris Diderot, Sorbonne Paris Cité, Hôpital Robert Debré, Paris, France. florence.renaldo@rdb.aphp.fr.
  • Konstantelou E; Neurologie et maladie métabolique, Hôpital Robert Debré, AP-HP, Paris, France. florence.renaldo@rdb.aphp.fr.
  • Drunat S; Inserm U1141, Université Paris Diderot, Sorbonne Paris Cité, Hôpital Robert Debré, Paris, France. imen.dorboz@inserm.fr.
  • Tabet AC; UF de Génétique moléculaire, Hôpital Robert Debré, AP-HP, Paris, France. Cecile.pagan@chu-lyon.fr.
  • Boespflug-Tanguy O; IUH, Hôpital Saint-Louis, Paris, France. samuel.quentin@sls.aphp.fr.
BMC Med Genet ; 16: 77, 2015 Sep 02.
Article in En | MEDLINE | ID: mdl-26329556
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosomes, Human, Pair 1 / Mutagenesis, Insertional / Myelin Proteolipid Protein / Gene Duplication / Pelizaeus-Merzbacher Disease Limits: Female / Humans Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2015 Document type: Article Affiliation country: France Country of publication: United kingdom
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosomes, Human, Pair 1 / Mutagenesis, Insertional / Myelin Proteolipid Protein / Gene Duplication / Pelizaeus-Merzbacher Disease Limits: Female / Humans Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2015 Document type: Article Affiliation country: France Country of publication: United kingdom