Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation

European Journal of Human Genetics

Volumn 22, Issue 10, 2014, Pages 1180-1184

  Khan, Tahir Naeem ^a   Klar, Joakim ^b   Tariq, Muhammad ^a   Anjum Baig, Shehla ^c   Malik, Naveed Altaf ^a   Yousaf, Raja ^d   Baig, Shahid Mahmood ^a   Dahl, Niklas ^b  

^a NATIONAL INSTITUTE FOR BIOTECHNOLOGY AND GENETIC ENGINEERING NIBGE   (Pakistan)

^b UPPSALA UNIVERSITY   (Sweden)

^c Children Hospital Islamabad   (Pakistan)

^d PAKISTAN INSTITUTE OF MEDICAL SCIENCES   (Pakistan)

Author keywords

ATL1 gene; autosomal recessive; SPG3A

Indexed keywords

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; ATLASTIN 1 GENE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CHROMOSOME 14Q; CONTROLLED STUDY; FEMALE; GENE; GENE SEQUENCE; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; MALE; MIDDLE AGED; MISSENSE MUTATION; NONSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEGREGATION ANALYSIS; SPASTIC PARAPLEGIA; SPASTIC PARAPLEGIA 3A; AMINO ACID SEQUENCE; CONSANGUINITY; DNA SEQUENCE; GENE LOCUS; GENETIC SCREENING; GENETIC VARIABILITY; GENETICS; HOMOZYGOTE; MOLECULAR GENETICS; PEDIGREE;

ATL1 PROTEIN, HUMAN; GUANINE NUCLEOTIDE BINDING PROTEIN; MEMBRANE PROTEIN;

ADULT; AGED; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; FEMALE; GENETIC LOCI; GENETIC TESTING; GENETIC VARIATION; GTP-BINDING PROTEINS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; SEQUENCE ANALYSIS, DNA; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 84927066296     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.5     Document Type: Article

References (24)

1. Fink JK, Heiman-Patterson T, Bird T et al: Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group. Neurology 1996; 46: 1507-1514.
2. Finsterer J, Loscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, Stevanin G: Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. J Neurol Sci 2012; 318: 1-18.
3. Kwon MJ, Lee ST, Kim JW, Sung DH, Ki CS: Clinical and genetic analysis of a Korean family with hereditary spastic paraplegia type 3. Ann Clin Lab Sci 2010; 40: 375-379.
4. Rainier S, Hedera P, Alvarado D et al: Hereditary spastic paraplegia linked to chromosome 14q11-q21: reduction of the SPG3 locus interval from 5.3 to 2.7 cM. J Med Genet 2001; 38: E39.
5. Goldblatt J, Ballo R, Sachs B, Moosa A: X-linked spastic paraplegia: evidence for homogeneity with a variable phenotype. Clin Genet 1989; 35: 116-120.
6. Hourani R, El-Hajj T, Barada WH, Hourani M, Yamout BI: MR imaging findings in autosomal recessive hereditary spastic paraplegia. AJNR Am J Neuroradiol 2009; 30: 936-940.
7. Keppen LD, Leppert MF, O'Connell P et al: Etiological heterogeneity in X-linked spastic paraplegia. Am J Hum Genet 1987; 41: 933-943.
8. Schule R, Schols L: Genetics of hereditary spastic paraplegias. Semin Neurol 2011; 31: 484-493.
9. Durr A, Camuzat A, Colin E et al: Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Arch Neurol 2004; 61: 1867-1872.
10. Namekawa M, Ribai P, Nelson I et al: SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. Neurology 2006; 66: 112-114.
11. D'Amico A, Tessa A, Sabino A, Bertini E, Santorelli FM, Servidei S: Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene. Neurology 2004; 62: 2138-2139.
12. Hedera P: Spastic Paraplegia 3A. (Updated 9 February, 2012); In: Pagon RA AM, Bird TD et al: (eds). GeneReviewst (Internet). Seattle, WA, USA: University of Washington, 1993-2013. Available at http://www.ncbi.nlm.nih.gov/books/NBK45978
13. Orlacchio A, Montieri P, Babalini C, Gaudiello F, Bernardi G, Kawarai T: Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation. J Neurol 2011; 258: 1361-1363.
14. Zhao X, Alvarado D, Rainier S et al: Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nat Genet 2001; 29: 326-331.
15. Varga R-E, Schü le R, Fadel H et al: Do not trust the pedigree: reduced and sexdependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia. Hum Mutat 2013; 34: 860-863.
16. Wang K, Li M, Hakonarson H: ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010; 38: e164.
17. Abou Jamra R, Philippe O, Raas-Rothschild A et al: Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet 2011; 88: 788-795.
18. Tesson C, Nawara M, Salih MA et al: Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am J Hum Genet 2012; 91: 1051-1064.
19. Ivanova N, Claeys KG, Deconinck T et al: Hereditary spastic paraplegia 3a associated with axonal neuropathy. Arch Neurol 2007; 64: 706-713.
20. Sauter SM, Engel W, Neumann LM, Kunze J, Neesen J: Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus. Hum Mutat 2004; 23: 98.
21. Guelly C, Zhu PP, Leonardis L et al: Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. Am J Hum Genet 2011; 88: 99-105.
22. Scarano V, Mancini P, Criscuolo C et al: The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy. J Neurol 2005; 252: 901-903.
23. Alvarez V, Sanchez-Ferrero E, Beetz C et al: Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia. BMC Neurol 2010; 10: 89.
24. Klebe S, Depienne C, Gerber S et al: Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. Brain 2012; 135: 2980-2993.