A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans

The New England Journal of Medicine
M GünelR P Lifton

Abstract

Cerebral cavernous malformation is a vascular disease of the brain causing headaches, seizures, and cerebral hemorrhage. Familial and sporadic cases are recognized, and a gene causing familial disease has been mapped to chromosome 7. Hispanic Americans have a higher prevalence of cavernous malformation than do other ethnic groups, raising the possibility that affected persons in this population have inherited the same mutation from a common ancestor. We compared the segregation of genetic markers and clinical cases of cavernous malformation in Hispanic-American kindreds with familial disease; we also compared the alleles for markers linked to cavernous malformation in patients with familial and sporadic cases. All kindreds with familial disease showed linkage of cavernous malformation to a short segment of chromosome 7 (odds supporting linkage, 4X10(10).1). Forty-seven affected members of 14 kindreds shared identical alleles for up to 15 markers linked to the cavernous-malformation gene, demonstrating that they had inherited the same mutation from a common ancestor. Ten patients with sporadic cases also shared these same alleles, indicating that they too had inherited the same mutation. Thirty-three asymptomatic carriers of the...Continue Reading

References

Nov 1, 1978·Archives of Neurology·J M BicknellP Turner
Nov 1, 1992·European Journal of Pediatrics·E Steichen-GersdorfK Twerdy
Nov 11, 1991·Journal of Neurosurgery·O Del CurlingT E Craven
Nov 1, 1991·Journal of Neurosurgery·J R RobinsonJ R Little
Sep 1, 1990·Neurological Research·M GangemiL Sigona
Feb 1, 1988·Neurology·I MasonJ M Bicknell
Aug 11, 1988·The New England Journal of Medicine·D RigamontiR F Spetzler
Jun 1, 1987·Annals of Neurology·W B DobynsE R Laws
Oct 1, 1987·Journal of Neurosurgery·D RigamontiR F Spetzler
Dec 1, 1970·Journal of Neurology, Neurosurgery, and Psychiatry·J V Clark
Sep 1, 1981·Proceedings of the National Academy of Sciences of the United States of America·G I BellW J Rutter
Apr 1, 1984·Neurology·D D SpencerP D Williamson
Jun 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·G M LathropJ Ott
Feb 1, 1982·American Journal of Medical Genetics·L A HaymanV M Riccardi
Jul 3, 1995·Proceedings of the National Academy of Sciences of the United States of America·M GünelR P Lifton
Mar 1, 1995·Human Molecular Genetics·J DubovskyJ L Weber
Mar 1, 1994·Journal of Neurosurgery·J M ZabramskiG Brown
May 31, 1947·Lancet·H A KIDD, J N CUMINGS

❮ Previous
Next ❯

Citations

Sep 5, 2007·Der Radiologe·F AhlhelmC Roth
Dec 25, 2007·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Mei-Hua HuShao-Hsuan Hsia
Mar 11, 2005·Acta Neuropathologica·Masamitsu AbeTeruaki Kawano
Sep 1, 2005·Current Neurology and Neuroscience Reports·Nicholas W PlummerDouglas A Marchuk
Oct 1, 2013·Clinical Neurology and Neurosurgery·Churl-Su KwonChristopher S Ogilvy
Apr 18, 2002·Journal of the Neurological Sciences·Dong-Hui ChenThomas D Bird
Aug 1, 1996·Nature Genetics·M Günel, R P Lifton
Dec 3, 2009·Nature Reviews. Neurology·Sachin BatraDaniele Rigamonti
May 4, 2001·Plastic and Reconstructive Surgery·C C BreugemR C Hennekam
May 6, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Carol J GallioneDouglas A Marchuk
Jul 1, 1997·Journal of Neurology, Neurosurgery, and Psychiatry·L NoteletJ P Houtteville
Feb 28, 2009·Stroke; a Journal of Cerebral Circulation·Leiling ChenMurat Gunel
Sep 16, 2011·Clinical Neurosurgery·Daniel L Barrow, Albert J Schuette
Oct 26, 2012·Biological Chemistry·Bryan T RichardsonGary L Johnson
Oct 4, 2011·Journal of Neurosurgery·Daniel D CavalcantiMark C Preul
Jul 25, 2006·Neurosurgical Focus·Stefan A MindeaIssam A Awad
Jul 25, 2006·Neurosurgical Focus·Shervin R DashtiWarren R Selman
Jul 1, 1998·Journal of Neurosurgery·P W DetwilerR F Spetzler
Jul 12, 2003·Journal of Neurosurgery·Maxwell S H LauransMurat Gunel
Apr 1, 2006·Journal of Neurosurgery·Aaron A Cohen-GadolWilliam E Krauss
Jul 6, 2000·Journal of Neurosurgery·H DeutschF Epstein
Mar 18, 2004·Radiographics : a Review Publication of the Radiological Society of North America, Inc·Joan C VilanovaPablo R Ros
Sep 3, 2009·Neurological Research·Azadeh EbrahimiHossein Nejadnik
Nov 30, 2013·Cellular and Molecular Life Sciences : CMLS·Oriana S Fisher, Titus J Boggon
Dec 6, 2014·Neuroimaging Clinics of North America·Hortensia Alvarez, Mauricio Castillo
Jul 10, 2012·Oral and Maxillofacial Surgery Clinics of North America·Shelly Abramowicz, Bonnie L Padwa
Apr 17, 2012·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·Juri KivelevJuha Hernesniemi
May 17, 2011·International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience·Gamze TanrioverNecdet Demir
May 18, 2007·Neuro-Chirurgie·E Tournier-Lasserve
May 21, 2009·European Journal of Medical Genetics·Milena CauMaria Antonietta Melis
Feb 13, 2014·Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism·Brian P Walcott, Randall T Peterson

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