An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

European Journal of Human Genetics

Volumn 23, Issue 2, 2015, Pages 256-259

  Abdollahpour, Hengameh ^a,e   Alawi, Malik ^a,b,c   Kortüm, Fanny ^a   Beckstette, Michael ^b   Seemanova, Eva ^d   Komárek, Vladimír ^d   Rosenberger, Georg ^a   Kutsche, Kerstin ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b UNIVERSITY OF HAMBURG   (Germany)

^c LEIBNIZ INSTITUTE FOR EXPERIMENTAL VIROLOGY   (Germany)

^d UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^e MVZ genteQ GmbH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADAPTOR PROTEIN; ADAPTOR PROTEIN 4B1; UNCLASSIFIED DRUG;

ADAPTOR PROTEIN 4 DEFICIENCY SYNDROME; ADOLESCENT; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; ELECTROENCEPHALOGRAPHY; EXOME; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION; GENE SEQUENCE; GROWTH RETARDATION; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MICROCEPHALY; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; QUADRIPLEGIA; SPASTIC PARAPLEGIA; SPASTICITY; SPEECH DISORDER; WALKING DIFFICULTY; GENETICS; INTELLECTUAL DISABILITY; SIBLING; SYNDROME;

ADAPTOR PROTEIN COMPLEX 4; ADOLESCENT; CHILD; FEMALE; FRAMESHIFT MUTATION; HUMANS; INTELLECTUAL DISABILITY; MALE; QUADRIPLEGIA; SIBLINGS; SYNDROME;

EID: 84921325792     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.73     Document Type: Article

References (20)

1. 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.
2. Hirst J, Irving C, Borner GH: Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia. Traffic 2013; 14: 153-164.
3. McNiven MA, Thompson HM: Vesicle formation at the plasma membrane and trans-Golgi network: the same but different. Science 2006; 313: 1591-1594.
4. Dell'Angelica EC, Mullins C, Bonifacino JS: AP-4, a novel protein complex related to clathrin adaptors. J Biol Chem 1999; 274: 7278-7285.
5. Hirst J, Bright NA, Rous B, Robinson MS: Characterization of a fourth adaptor-related protein complex. Mol Biol Cell 1999; 10: 2787-2802.
6. Verkerk AJ, Schot R, Dumee B et al: Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy. Am J Hum Genet 2009; 85: 40-52.
7. Moreno-De-Luca A, Helmers SL, Mao H et al: Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. J Med Genet 2011; 48: 141-144.
8. Najmabadi H, Hu H, Garshasbi M et al: Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 2011; 478: 57-63.
9. Blumkin L, Lerman-Sagie T, Lev D, Yosovich K, Leshinsky-Silver E: 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 2011; 305: 67-70.
10. Bauer P, Leshinsky-Silver E, Blumkin L et al: Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47). Neurogenetics 2012; 13: 73-76.
11. Kong XF, Bousfiha A, Rouissi A et al: A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease. PLoS One 2013; 8: e58286.
12. Fink JK: Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. Acta Neuropathol 2013; 126: 307-328.
13. Borck G, Molla-Herman A, Boddaert N et al: Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome. Hum Mutat 2008; 29: 966-974.
14. Cacciagli P, Desvignes JP, Girard N et al: AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). Eur J Hum Genet 2013; 22: 363-368.
15. Montpetit A, Cote S, Brustein E et al: Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord. PLoS Genet 2008; 4: e1000296.
16. Saillour Y, Zanni G, Des Portes V et al: Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia. J Med Genet 2007; 44: 739-744.
17. Tarpey PS, Stevens C, Teague J et al: Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation. Am J Hum Genet 2006; 79: 1119-1124.
18. Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS: Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. Mol Cell 1999; 3: 11-21.
19. Nesbit MA, Hannan FM, Howles SA et al: Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. Nat Genet 2013; 45: 93-97.
20. Matsuda S, Miura E, Matsuda K et al: Accumulation of AMPA receptors in autophagosomes in neuronal axons lacking adaptor protein AP-4. Neuron 2008; 57: 730-745.