Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia

American Journal of Medical Genetics, Part A

Volumn 170, Issue 4, 2016, Pages 852-855

  Takenouchi, Toshiki ^a   Okamoto, Nobuhiko ^b   Ida, Shinobu ^b   Uehara, Tomoko ^a   Kosaki, Kenjiro ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

Author keywords

Camptodactyly; CDC42; Developmental delay; Intellectual disability; Lymphedema; Thrombocytopenia

Indexed keywords

PROTEIN CDC42;

ARTICLE; ASCITES; BIRTH WEIGHT; BRAIN ATROPHY; CAMPTODACTYLY; CASE REPORT; CDC42 GENE; CLINICAL FEATURE; COMPRESSION STOCKING; DEVELOPMENTAL DISORDER; EYE EXAMINATION; FEMALE; GENE MUTATION; HEAD CIRCUMFERENCE; HUMAN; HYDROTHORAX; HYPERTELORISM; HYPOALBUMINEMIA; INTELLECTUAL IMPAIRMENT; INTESTINE LYMPHANGIECTASIA; KARYOTYPE 46,XX; LABORATORY TEST; LEUKOPENIA; LYMPHEDEMA; MICROCEPHALY; MICROGNATHIA; MUSCLE HYPOTONIA; NEUROIMAGING; NYSTAGMUS; PERCEPTION DEAFNESS; PERICARDIAL EFFUSION; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROTEIN LOSING GASTROENTEROPATHY; RENAL DIABETES; RETINA DETACHMENT; RETINA MALFORMATION; THROMBOCYTE COUNT; THROMBOCYTOPENIA; UPPER RESPIRATORY TRACT INFECTION; VISUAL ACUITY; ALLELE; DNA MUTATIONAL ANALYSIS; EXON; FACIES; GENETIC ASSOCIATION STUDY; GENETICS; HETEROZYGOTE; INFANT; MUTATION; SYNDROME;

ALLELES; CDC42 GTP-BINDING PROTEIN; DNA MUTATIONAL ANALYSIS; EXONS; FACIES; FEMALE; GENETIC ASSOCIATION STUDIES; HETEROZYGOTE; HUMANS; INFANT; MUTATION; PHENOTYPE; SYNDROME; THROMBOCYTOPENIA;

EID: 84961210266     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37526     Document Type: Article

References (9)

1. Cappello S, Attardo A, Wu X, Iwasato T, Itohara S, Wilsch-Brauninger M, Eilken HM, Rieger MA, Schroeder TT, Huttner WB, Brakebusch C, Gotz M. 2006. The Rho-GTPase cdc42 regulates neural progenitor fate at the apical surface. Nat Neurosci 9:1099-1107.
2. D'Amico G, Jones DT, Nye E, Sapienza K, Ramjuan AR, Reynolds LE, Robinson SD, Kostourou V, Martinez D, Aubyn D, Grose R, Thomas GJ, Spencer-Dene B, Zicha D, Davies D, Tybulewicz V, Hodivala-Dilke KM. 2009. Regulation of lymphatic-blood vessel separation by endothelial Rac1. Development 136:4043-4053.
3. MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, Daly MJ, Gerstein MB, Goldstein DB, Hirschhorn JN, Leal SM, Pennacchio LA, Stamatoyannopoulos JA, Sunyaev SR, Valle D, Voight BF, Winckler W, Gunter C. 2014. Guidelines for investigating causality of sequence variants in human disease. Nature 508:469-476.
4. Nobes CD, Hall A. 1995. Rho, rac, and cdc42 GTPases regulate the assembly of multimolecular focal complexes associated with actin stress fibers, lamellipodia, and filopodia. Cell 81:53-62.
5. Peng X, Lin Q, Liu Y, Jin Y, Druso JE, Antonyak MA, Guan JL, Cerione RA. 2013. Inactivation of Cdc42 in embryonic brain results in hydrocephalus with ependymal cell defects in mice. Protein Cell 4:231-242.
6. Pleines I, Eckly A, Elvers M, Hagedorn I, Eliautou S, Bender M, Wu X, Lanza F, Gachet C, Brakebusch C, Nieswandt B. 2010. Multiple alterations of platelet functions dominated by increased secretion in mice lacking Cdc42 in platelets. Blood 115:3364-3373.
7. Takenouchi T, Kosaki R, Niizuma T, Hata K, Kosaki K. 2015. Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay. Am J Med Genet A 167:2822-2825.
8. Tu S, Wu WJ, Wang J, Cerione RA. 2003. Epidermal growth factor-dependent regulation of Cdc42 is mediated by the Src tyrosine kinase. J Biol Chem 278:49293-49300.
9. Voet D, Voet JG. 2010. Amino acids. Biochemistry, 4th Edition. Hoboken, NJ, USA: Wiley. p 71.