Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)

Neurogenetics

Volumn 13, Issue 1, 2012, Pages 73-76

  Bauer, Peter ^a   Leshinsky Silver, Esther ^b,c   Blumkin, Lubov ^b,c   Schlipf, Nina ^a   Schröder, Christopher ^a   Schicks, Julia ^d   Lev, Dorit ^c   Riess, Olaf ^a   Lerman Sagie, Tally ^b,c   Schöls, Ludger ^d  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b WOLFSON MEDICAL CENTER   (Israel)

^c TEL AVIV UNIVERSITY   (Israel)

^d UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

AP4; AP4B1; Complicated; Spastic paraplegia; SPG47

Indexed keywords

AP4B1 PROTEIN; PEPTIDES AND PROTEINS; UNCLASSIFIED DRUG; ADAPTOR PROTEIN;

ARTICLE; CHROMOSOME; CONTROLLED STUDY; FRAMESHIFT MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY SPASTIC HEREDITARY SPASTIC; HUMAN; INTELLECTUAL IMPAIRMENT; PRIORITY JOURNAL; SIBLING; SPASTIC PARAPLEGIA; CONSANGUINITY; ETHNIC GROUP; EXON; FEMALE; GENETICS; MALE; METABOLISM; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY;

ADAPTOR PROTEIN COMPLEX 4; BASE SEQUENCE; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; ETHNIC GROUPS; EXONS; FEMALE; FRAMESHIFT MUTATION; HUMANS; INTELLECTUAL DISABILITY; MALE; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 84861318140     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-012-0314-0     Document Type: Article

References (9)

1. Salinas S, Proukakis C, Crosby A, Warner TT (2008) Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol 7:1127-1138
2. Blumkin L, Lerman-Sagie T, Lev D, Yosovich K, Leshinsky-Silver E (2011) A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum. J Neurol Sci 305:67-70
3. Goecks J, Nekrutenko A, Taylor J (2011) Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences. Genome Biol 11:R86
4. Lunter G, Goodson M (2011) Stampy: a statistical algorithm for sensitive and fast mapping of Illumina sequence reads. Genome Res 21:936-939
5. Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R, 1000 Genome Project Data Processing Subgroup (2009) The sequence alignment/map format and SAM tools. Bioinforma, Oxf 25:2078-2079
6. Wang K, Li M, Hakonarson H (2011) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38:e164
7. Abou Jamra R, Philippe O, Raas-Rothschild A, Eck SH, Graf E, Buchert R, Borck G, Ekici A, Brockschmidt FF, Nöthen MM, Munnich A, Strom TM, Reis A, Colleaux L (2011) Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet 88:788-795
8. Moreno-De-Luca A, Helmers SL, Mao H, Burns TG, Melton AM, Schmidt KR, Fernhoff PM, Ledbetter DH, Martin CL (2011) Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. J Med Genet 48:141-144
9. Verkerk AJ, Schot R, Dumee B, Schellekens K, Swagemakers S, Bertoli-Avella AM, Lequin MH, Dudink J, Govaert P, van Zwol AL, Hirst J, Wessels MW, Catsman-Berrevoets C, Verheijen FW, de Graaff E, de Coo IF, Kros JM, Willemsen R, Willems PJ, van der Spek PJ, Mancini GM (2009) Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy. Am J Hum Genet 85:40-52