Ontology highlight
ABSTRACT:
SUBMITTER: Paolini NA
PROVIDER: S-EPMC5339345 | biostudies-literature | 2017 Mar
REPOSITORIES: biostudies-literature
Paolini Nahuel A NA Attwood Martin M Sondalle Samuel B SB Vieira Carolina Marques Dos Santos CMDS van Adrichem Anita M AM di Summa Franca M FM O'Donohue Marie-Françoise MF Gleizes Pierre-Emmanuel PE Rachuri Swaksha S Briggs Joseph W JW Fischer Roman R Ratcliffe Peter J PJ Wlodarski Marcin W MW Houtkooper Riekelt H RH von Lindern Marieke M Kuijpers Taco W TW Dinman Jonathan D JD Baserga Susan J SJ Cockman Matthew E ME MacInnes Alyson W AW
American journal of human genetics 20170301 3
Ribosomal protein (RP) gene mutations, mostly associated with inherited or acquired bone marrow failure, are believed to drive disease by slowing the rate of protein synthesis. Here de novo missense mutations in the RPS23 gene, which codes for uS12, are reported in two unrelated individuals with microcephaly, hearing loss, and overlapping dysmorphic features. One individual additionally presents with intellectual disability and autism spectrum disorder. The amino acid substitutions lie in two hi ...[more]