Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly

Am J Hum Genet. 2004 Apr;74(4):777-80. doi: 10.1086/383205.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / genetics
  • Amino Acid Sequence
  • Base Sequence
  • Carrier Proteins*
  • DNA-Binding Proteins
  • Female
  • Genetic Diseases, X-Linked / genetics*
  • Humans
  • Intellectual Disability / complications
  • Intellectual Disability / genetics*
  • Male
  • Microcephaly / complications
  • Microcephaly / genetics*
  • Molecular Sequence Data
  • Mutation / genetics*
  • Nuclear Proteins / chemistry
  • Nuclear Proteins / genetics*
  • Pedigree
  • Syndrome

Substances

  • Carrier Proteins
  • DNA-Binding Proteins
  • Nuclear Proteins
  • PQBP1 protein, human

Associated data

  • OMIM/300463
  • OMIM/309470
  • OMIM/309500
  • OMIM/309550
  • OMIM/309600
  • RefSeq/NM_005710