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Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: Confirmation of autosomal recessive inheritance?

2000; Wiley; Volume: 92; Issue: 2 Linguagem: Inglês

10.1002/(sici)1096-8628(20000515)92

1096-8628

A. M�garban�, I. Desguerres, E. Rizkallah, Valérie Delague, Rima Nabbout, A Barois, Andoni Urtizberea,

RNA modifications and cancer

American Journal of Medical GeneticsVolume 92, Issue 2 p. 117-121 Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: Confirmation of autosomal recessive inheritance? A. Mégarbané, Corresponding Author A. Mégarbané [email protected] Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, LebanonUnité de Génétique Médicale. Faculté de Médecine, Université Saint-Joseph, 42, rue de Grenelle, 75007 Paris, FranceSearch for more papers by this authorI. Desguerres, I. Desguerres Service de Neuro-Pédiatrie, Hôpital Saint Vincent de Paul, Paris, FranceSearch for more papers by this authorE. Rizkallah, E. Rizkallah Service de Pédiatrie, Hôpital Saint Georges, Beirut, LebanonSearch for more papers by this authorV. Delague, V. Delague Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, LebanonSearch for more papers by this authorR. Nabbout, R. Nabbout Service de Pédiatrie. Hôtel Dieu de France, Beirut, LebanonSearch for more papers by this authorA. Barois, A. Barois Institut de Myologie, Hôpital de la Salpétrière, Paris, FranceSearch for more papers by this authorA. Urtizberea, A. Urtizberea Institut de Myologie, Hôpital de la Salpétrière, Paris, FranceSearch for more papers by this author A. Mégarbané, Corresponding Author A. Mégarbané [email protected] Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, LebanonUnité de Génétique Médicale. Faculté de Médecine, Université Saint-Joseph, 42, rue de Grenelle, 75007 Paris, FranceSearch for more papers by this authorI. Desguerres, I. Desguerres Service de Neuro-Pédiatrie, Hôpital Saint Vincent de Paul, Paris, FranceSearch for more papers by this authorE. Rizkallah, E. Rizkallah Service de Pédiatrie, Hôpital Saint Georges, Beirut, LebanonSearch for more papers by this authorV. Delague, V. Delague Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, LebanonSearch for more papers by this authorR. Nabbout, R. Nabbout Service de Pédiatrie. Hôtel Dieu de France, Beirut, LebanonSearch for more papers by this authorA. Barois, A. Barois Institut de Myologie, Hôpital de la Salpétrière, Paris, FranceSearch for more papers by this authorA. Urtizberea, A. Urtizberea Institut de Myologie, Hôpital de la Salpétrière, Paris, FranceSearch for more papers by this author First published: 25 April 2000 https://doi.org/10.1002/(SICI)1096-8628(20000515)92:2 3.0.CO;2-CCitations: 44Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Abstract Brown-Vialetto-Van Laere syndrome or pontobulbar palsy with deafness is a rare disorder characterized by bilateral nerve deafness, a variety of cranial nerve disorders usually involving the motor components of the 7th and 9th to 12th cranial nerves, and less commonly an involvement of spinal motor nerves and upper motor neurons. Familial and sporadic cases have been reported. Based on particular evidence, autosomal recessive, autosomal dominant, and X-linked inheritance, as well as autoimmune origin have been considered. We report on a large inbred Lebanese family with four patients of both sexes, strongly suggesting autosomal recessive inheritance. Am. J. Med. Genet. 92:117–121, 2000. © 2000 Wiley-Liss, Inc. REFERENCES Abarbanel JM, Ashby P, Marquez-Julio A, Chapman KR. 1991. Bulbo-pontine paralysis with deafness: the Vialetto-Van Laere syndrome. Can J Neurol Sci 18: 349– 351. Alberca R, Montero C, Ibanez A, Segura DI, Miranda-Nieves G. 1980. 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De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling. Am J Hum Genet 61: 1102– 1111. Citing Literature Volume92, Issue215 May 2000Pages 117-121 ReferencesRelatedInformation