Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

European Journal of Human Genetics

Volumn 23, Issue 5, 2015, Pages 633-638

  Kolanczyk, Mateusz ^a,b   Krawitz, Peter ^a   Hecht, Jochen ^a   Hupalowska, Anna ^c   Miaczynska, Marta ^c   Marschner, Katrin ^a   Schlack, Claire ^a   Emmerich, Denise ^a,b   Kobus, Karolina ^a   Kornak, Uwe ^a   Robinson, Peter N ^a   Plecko, Barbara ^d   Grangl, Gernot ^e   Uhrig, Sabine ^e   Mundlos, Stefan ^a,b   Horn, Denise ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c INTERNATIONAL INSTITUTE OF MOLECULAR AND CELL BIOLOGY   (Poland)

^d UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^e MEDICAL UNIVERSITY OF GRAZ   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

COILED COIL DOMAIN CONTAINING PROTEIN 22; PEPTIDES AND PROTEINS; UNCLASSIFIED DRUG; CCDC22 PROTEIN, HUMAN; PROTEIN;

ACTIN POLYMERIZATION; ARTICLE; AUSTRIAN; BRAIN DISEASE; CAMPTODACTYLY; CHROMOSOME XP; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; CRYPTORCHISM; DANDY WALKER SYNDROME; EXOME; EXON; GENE EXPRESSION; GENE SEQUENCE; GENETIC VARIABILITY; GLAUCOMA; HEART DISEASE; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HUMAN CELL; HYPERTELORISM; INTELLECTUAL IMPAIRMENT; LYMPHOBLASTOID CELL LINE; MACROCEPHALY; MALE; MOLECULAR INTERACTION; PRIORITY JOURNAL; RITSCHER SCHINZEL SYNDROME; WESTERN BLOTTING; ABNORMALITIES, MULTIPLE; ADOLESCENT; AMINO ACID SEQUENCE; CASE REPORT; CELL LINE; CHEMISTRY; CHILD; CRANIOFACIAL ABNORMALITIES; DANDY-WALKER SYNDROME; GENETIC ASSOCIATION STUDY; GENETICS; HEART SEPTAL DEFECTS, ATRIAL; HIGH THROUGHPUT SEQUENCING; INTELLECTUAL DISABILITY; MISSENSE MUTATION; MOLECULAR GENETICS; PEDIGREE; PHENOTYPE; SEQUENCE ALIGNMENT; X CHROMOSOMAL INHERITANCE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; AMINO ACID SEQUENCE; CELL LINE; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL ABNORMALITIES; DANDY-WALKER SYNDROME; EXOME; GENE EXPRESSION; GENES, X-LINKED; GENETIC ASSOCIATION STUDIES; HEART SEPTAL DEFECTS, ATRIAL; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTELLECTUAL DISABILITY; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PROTEINS; SEQUENCE ALIGNMENT;

EID: 84928060493     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.109     Document Type: Article

References (22)

1. Leonardi ML, Pai GS, Wilkes B, Lebel RR: Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review. Am J Med Genet 2001; 102: 237-242.
2. Elliott AM, Simard LR, Coghlan G et al: A novel variant in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort. J Med Genet 2013; 50: 819-822.
3. Craft E, Wildig CE, Crow YJ: 3C syndrome. Am J Med Genet A 2010; 152A: 1026-1027.
4. Li H, Handsaker B, Wysoker A et al: The Sequence Alignment/Map format and SAMtools. Bioinformatics 2009; 25: 2078-2079.
5. Wang K, Li M, Hakonarson H: ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010; 38: e164.
6. Thorvaldsdottir H, Robinson JT, Mesirov JP: Integrative genomics viewer (IGV): high-performance genomics data visualization and exploration. Brief Bioinform 2013; 14: 178-192.
7. Baasanjav S, Jamsheer A, Kolanczyk M et al: Osteopoikilosis and multiple exostoses caused by novel variants in LEMD3 and EXT1 genes respectively-coincidence within one family. BMC Med Genet 2010; 11: 110.
8. Kamphans T, Krawitz PM: GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes. Bioinformatics 2012; 28: 2515-2516.
9. Voineagu I, Huang L, Winden K et al: CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. Mol Psychiatry 2012; 17: 4-7.
10. Piton A, Redin C, Mandel JL: XLID-causing variants and associated genes challenged in light of data from large-scale human exome sequencing. Am J Hum Genet 2013; 93: 368-383.
11. Starokadomskyy P, Gluck N, Li H et al: CCDC22 deficiency in humans blunts activation of proinflammatory NF-kappaB signaling. J Clin Invest 2013; 123: 2244-2256.
12. Burkhead JL, Morgan CT, Shinde U, Haddock G, Lutsenko S: COMMD1 forms oligomeric complexes targeted to the endocytic membranes via specific interactions with phosphatidylinositol 4,5-bisphosphate. J Biol Chem 2009; 284: 696-707.
13. Tomsig JL, Snyder SL, Creutz CE: Identification of targets for calcium signaling through the copine family of proteins. Characterization of a coiled-coil copine-binding motif. J Biol Chem 2003; 278: 10048-10054.
14. Coccia M: Molecular genetics of Nance-Horan syndrome and X-linked cataract. Doctoral thesis, Department of Molecular and Cellular Neuroscience, Institute of Ophthalmology, University College, London, 2010.
15. Brooks SP, Coccia M, Tang HR et al: The Nance-Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology. Hum Mol Genet 2010; 19: 2421-2432.
16. Harbour ME, Breusegem SY, Seaman MN: Recruitment of the endosomal WASH complex is mediated by the extended tail of Fam21 binding to the retromer protein Vps35. Biochem J 2012; 442: 209-220.
17. Derivery E, Sousa C, Gautier JJ, Lombard B, Loew D, Gautreau A: The Arp2/3 activator WASH controls the fission of endosomes through a large multiprotein complex. Dev Cell 2009; 17: 712-723.
18. Duleh SN, Welch MD: WASH and the Arp2/3 complex regulate endosome shape and trafficking. Cytoskeleton (Hoboken) 2010; 67: 193-206.
19. Gomez TS, Billadeau DD: A FAM21-containing WASH complex regulates retromerdependent sorting. Dev Cell 2009; 17: 699-711.
20. Harbour ME, Breusegem SY, Antrobus R, Freeman C, Reid E, Seaman MN: The cargo-selective retromer complex is a recruiting hub for protein complexes that regulate endosomal tubule dynamics. J Cell Sci 2010; 123: 3703-3717.
21. Ropers F, Derivery E, Hu H et al: Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP. Hum Mol Genet 2011; 20: 2585-2590.
22. Waters PJ: Degradation of mutant proteins, underlying loss of function phenotypes, plays a major role in genetic disease. Curr Issues Mol Biol 2001; 3: 57-65.