Central nervous system abnormalities in two cases with neonatal Marfan syndrome with novel mutations in the fibrillin-1 gene

American Journal of Medical Genetics, Part A

Volumn 152, Issue 9, 2010, Pages 2409-2412

  Barnett, Christopher P ^a   Wilson, Gregory J ^a   Chiasson, David A ^a   Gross, Gil J ^a   Hinek, Aleksander ^a   Hawkins, Cynthia ^a   Chitayat, David ^a,b  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b MOUNT SINAI HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRILLIN 1;

ALEXANDER DISEASE; AORTA SINUS; ARACHNODACTYLY; AUTOPSY; CASE REPORT; CENTRAL NERVOUS SYSTEM DISEASE; CONGENITAL DIAPHRAGM HERNIA; ECHOCARDIOGRAPHY; EXON; FACE DYSMORPHIA; FEMALE; HUMAN; INFANT; IRIS DISEASE; JOINT CONTRACTURE; LENS LUXATION; LETTER; MALE; MARFAN SYNDROME; MICROGYRIA; MISSENSE MUTATION; MITRAL VALVE PROLAPSE; MITRAL VALVE REGURGITATION; MUSCLE HYPOTONIA; NEONATAL RESPIRATORY DISTRESS SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; PATENT DUCTUS ARTERIOSUS; PRIORITY JOURNAL; PSEUDOPOLYMICROGYRIA; SPINAL CORD MALFORMATION; SUBLUXATION;

AUTOPSY; CENTRAL NERVOUS SYSTEM; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FEMALE; HUMANS; INFANT; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION;

EID: 77956130055     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33406     Document Type: Letter

References (11)

1. Booms P, Cisler J, Mathews K, Godfrey M, Tiecke F, Kaufmann U, Vetter U, Hagemeier C, Robinson P. 1999. Novel exon skipping mutation in the fibrillin-1 gene: Two 'hot spots' for the neonatal Marfan syndrome. Clin Genet 55:110-117.
2. Dietz H, Pyeritz R. 1995. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Mol Genet 4:1799-1809.
3. Dolinak D, Matshes E. 2000. Medicolegal neuropathology: A colour atlas. New York, New York: CRC Press LLC. p 154.
4. Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Adès LC, Biggin A, Benetts B, Brett M, Holman KJ, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C. 2007. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: An international study. Am J Med Genet 81:454-466. (Pubitemid 47330205)
5. Faivre L, Masurel-Paulet A, Collod-Béroud G, Callewaert BL, Child AH, Stheneur C, Binquet C, Gautier E, Chevallier B, Huet F, Loeys BL, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M, Halliday DJ, Béroud C, Bonithon-Kopp C, Claustres M, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G. 2009. Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics 123: 391-398.
6. Hennekam RC. 2005. Severe infantile Marfan syndrome versus neonatal Marfan syndrome. Am J Med Genet Part A 139A:1.
7. Hofman KJ, Bernhardt BA, Pyeritz RE. 1988. Marfan syndrome: Neuropsychological aspects. Am J Med Genet 31:331-338.
8. Liu W, Qian C, Comeau K, Brenn T, Furthmayr H, Francke U. 1996. Mutant fibrillin-1 monomers lacking EGF-like domains disrupt micro- fibril assembly and cause severe Marfan syndrome. Hum Mol Genet 5:1581-1587.
9. Morse R, Rockenmacher S, Pyeritz R, Sanders S, Bieber F, Lin A, MacLeod P, Hall B, Graham J. 1990. Diagnosis andmanagement of infantile Marfan syndrome. Pediatrics 86:888-895.
10. Putnam E, Cho M, Zinn A, Towbin J, Byers P, Milewicz D. 1996. Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene. Am J Med Genet 62:233-242.
11. Tamminga P, Jennekens FG, Barth PG, Fleury P, van den Berg H, Oorthuys JW. 1985. An infant with Marfanoid phenotype and congenital contractures associated with ocular and cardiovascular anomalies, cerebral white matter hypoplasia and spinal axonopathy. Eur J Pediatr 143: 228-231. (Pubitemid 15130711)