Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome

Clinical Genetics

Volumn 77, Issue 6, 2010, Pages 541-551

  Budny, B ^a   Badura Stronka, M ^a   Materna Kiryluk, A ^a   Tzschach, A ^b   Raynaud, M ^c   Latos Bielenska, A ^a   Ropers, H H ^b  

^a POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c CHU BRETONNEAU   (France)

Author keywords

Intellectual disability; Mental retardation; Novel syndrome; UBE2A; Ubiquitination; X linkage

Indexed keywords

AMINO ACID; UBE2A PROTEIN, HUMAN; UBIQUITIN CONJUGATING ENZYME;

AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; FAMILY; FEMALE; GENE; GENOTYPE; HUMAN; LINKAGE ANALYSIS; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; UBIQUITINATION RELATED GENE; X LINKED MENTAL RETARDATION; GENETIC LINKAGE; GENETICS; PATHOLOGY; PEDIGREE; UBIQUITINATION;

FEMALE; HUMANS; LINKAGE (GENETICS); MALE; MENTAL RETARDATION, X-LINKED; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; UBIQUITIN-CONJUGATING ENZYMES; UBIQUITINATION; GENETIC LINKAGE;

EID: 77953951584     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01429.x     Document Type: Article

References (14)

1. Nascimento RM, Otto PA, de Brouwer AP. UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. Am J Hum Genet 2006, 79:549-555.
2. Ropers HH. Genetics of intellectual disability. Curr Opin Genet Dev 2008, 18:241-250.
3. Chiurazzi P, Schwartz CE, Gecz J. XLMR genes: update 2007. Eur J Hum Genet 2008, 16:422-434.
4. Tarpey PS, Raymond FL, O'Meara S. Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. Am J Hum Genet 2007, 80:345-352.
5. Zou Y, Liu Q, Chen B. Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation. Am J Hum Genet 2007, 80:561-566.
6. Budny B, Chen W, Omran H. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Hum Genet 2006, 120:171-178.
7. Allen RC, Zoghbi HY, Moseley AB. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992, 51:1229-1239.
8. Carrel L, Willard HF. An assay for X inactivation based on differential methylation at the fragile X locus, FMR1. Am J Med Genet 1996, 64:27-30.
9. Howard RA, Sharma P, Hajjar C. Ubiquitin conjugating enzymes participate in polyglutamine protein aggregation. BMC Cell Biol 2007, 8:32.
10. Koken MH, Reynolds P, Jaspers-Dekker I. Structural and functional conservation of two human homologs of the yeast DNA repair gene RAD6. Proc Natl Acad Sci U S A 1991, 88:8865-8869.
11. Koken MH, Hoogerbrugge JW, Jasper-Dekker I. Expression of the ubiquitin-conjugating DNA repair enzymes HHR6A and B suggests a role in spermatogenesis and chromatin modification. Dev Biol 1996, 173:119-132.
12. Roest HP, van Klaveren J, de Wit J. Inactivation of the HR6B ubiquitin-conjugating DNA repair enzyme in mice causes male sterility associated with chromatin modification. Cell 1996, 86:799-810.
13. Roest HP, Baarends WM, de Wit J. The ubiquitin-conjugating DNA repair enzyme HR6A is a maternal factor essential for early embryonic development in mice. Mol Cell Biol 2004, 24:5485-5495.
14. Baarends WM, Wassenaar E, Hoogerbrugge JW. Loss of HR6B ubiquitin-conjugating activity results in damaged synaptonemal complex structure and increased crossing-over frequency during the male meiotic prophase. Mol Cell Biol 2003, 23:1151-1162.