Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia

Human Mutation

Volumn 34, Issue 6, 2013, Pages 860-863

  Varga, Rita Eva ^a   Schüle, Rebecca ^b,c   Fadel, Hicham ^d   Valenzuela, Irene ^e   Speziani, Fiorella ^c   Gonzalez, Michael ^c   Rudenskaia, Galina ^f   Nürnberg, Gudrun ^g   Thiele, Holger ^g   Altmüller, Janine ^g   Alvarez, Victoria ^h   Gamez, Josep ^e   Garbern, James Y ⁱ   Nürnberg, Peter ^g   Zuchner, Stephan ^c   Beetz, Christian ^a  

^a JENA UNIVERSITY HOSPITAL   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^d Al Kortobi Hospital   (Morocco)

^e HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^f RESEARCH CENTRE FOR MEDICAL GENETICS   (Russian Federation)

^g UNIVERSITY OF COLOGNE   (Germany)

^h HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

ⁱ UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

Author keywords

ATL1; Inheritance pattern; Pedigree; Penetrance; Spastic paraplegia

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; ATL1 GENE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; EXOME; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; PEDIGREE; PRIORITY JOURNAL;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; GENES, X-LINKED; GTP-BINDING PROTEINS; HUMANS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SEQUENCE ALIGNMENT; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 84878147053     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22309     Document Type: Article

References (18)

1. Alvarez V, Sanchez-Ferrero E, Beetz C, Diaz M, Alonso B, Corao AI, Gamez J, Esteban J, Gonzalo JF, Pascual-Pascual SI, Lopez de Munain A, Moris G, et al. 2010. Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia. BMC Neurol 10:89.
2. D'Amico A, Tessa A, Sabino A, Bertini E, Santorelli FM, Servidei S. 2004. Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene. Neurology 62:2138-2139.
3. Fink JK. 2006. Hereditary spastic paraplegia. Curr Neurol Neurosci Rep 6:65-76.
4. Finsterer J, Loscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, Stevanin G. 2012. Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. J Neurol Sci 318:1-18.
5. Hazan J, Fonknechten N, Mavel D, Paternotte C, Samson D, Artiguenave F, Davoine CS, Cruaud C, Durr A, Wincker P, Brottier P, Cattolico L, et al. 1999. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet 23:296-303.
6. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES. 1996. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 58:1347-1363.
7. Mitne-Neto M, Kok F, Beetz C, Pessoa A, Bueno C, Graciani Z, Martyn M, Monteiro CB, Mitne G, Hubert P, Nygren AO, Valadares M, et al. 2007. A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree. Eur J Hum Genet 15:1276-1279.
8. Namekawa M, Ribai P, Nelson I, Forlani S, Fellmann F, Goizet C, Depienne C, Stevanin G, Ruberg M, Durr A, Brice A. 2006. SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. Neurology 66:112-114.
9. Pfeifer GP. 2006. Mutagenesis at methylated CpG sequences. Curr Top Microbiol Immunol 301:259-281.
10. Proukakis C, Moore D, Labrum R, Wood NW, Houlden H. 2011. Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males. J Neurol Sci 306:62-65.
11. Raggio JF, Thurmon TF, Anderson EE. 1973. X-linked hereditary spastic paraplegia. J LA State Med Soc 125:4-5.
12. Rudenskaia GE, Sermiagina IG, Illarioshkin SN, Sidorova OP, Fedotov VP, Poliakov AV. 2010. Hereditary spastic paraplegia type 4 (SPG4): clinical and molecular-genetic characteristics. Zh Nevrol Psikhiatr Im SS Korsakova 110:12-19.
13. Sanderson CM, Connell JW, Edwards TL, Bright NA, Duley S, Thompson A, Luzio JP, Reid E. 2006. Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners. Hum Mol Genet 15:307-318.
14. Saugier-Veber P, Munnich A, Bonneau D, Rozet JM, Le Merrer M, Gil R, Boespflug-Tanguy O. 1994. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat Genet 6:257-262.
15. Schule R, Holland-Letz T, Klimpe S, Kassubek J, Klopstock T, Mall V, Otto S, Winner B, Schols L. 2006. The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity. Neurology 67:430-434.
16. Schule R, Schols L. 2011. Genetics of hereditary spastic paraplegias. Semin Neurol 31:484-493.
17. Zhao X, Alvarado D, Rainier S, Lemons R, Hedera P, Weber CH, Tukel T, Apak M, Heiman-Patterson T, Ming L, Bui M, Fink JK. 2001. Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nat Genet 29:326-331.
18. Zuchner S, Wang G, Tran-Viet KN, Nance MA, Gaskell PC, Vance JM, Ashley-Koch AE, Pericak-Vance MA. 2006. Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet 79:365-369.