Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations

Eur J Med Genet. 2018 Dec;61(12):733-737. doi: 10.1016/j.ejmg.2018.06.001. Epub 2018 Jun 5.


Biallelic mutations in the RTTN gene have been reported in association with microcephaly, short stature, developmental delay and malformations of cortical development. RTTN mutations have previously shown to link aberrant ciliary function with abnormal development and organization of the human cerebral cortex. We here report three individuals from two unrelated families with novel mutations in the RTTN gene. The phenotype consisted of microcephaly, short stature, pachygyria or polymicrogyria, colpocephaly, hypoplasia of the corpus callosum and superior vermis. These findings provide further confirmation of the phenotype related to pathogenic variants in RTTN.

Keywords: Malformations of cortical development; Microcephaly; Pachygyria; Polymicrogyria; RTTN; Rotatin; Short stature.

MeSH terms

  • Adolescent
  • Adult
  • Agenesis of Corpus Callosum / genetics
  • Agenesis of Corpus Callosum / pathology
  • Brain Diseases / genetics*
  • Brain Diseases / pathology
  • Carrier Proteins / genetics*
  • Cell Cycle Proteins
  • Cerebral Cortex / pathology
  • Child
  • Child, Preschool
  • Corpus Callosum / pathology
  • Developmental Disabilities / genetics
  • Developmental Disabilities / pathology
  • Dwarfism / genetics*
  • Dwarfism / pathology
  • Female
  • Humans
  • Infant
  • Lateral Ventricles / abnormalities*
  • Lateral Ventricles / pathology
  • Male
  • Microcephaly / genetics*
  • Microcephaly / pathology
  • Nervous System Malformations / genetics
  • Nervous System Malformations / pathology
  • Young Adult


  • Carrier Proteins
  • Cell Cycle Proteins
  • RTTN protein, human

Supplementary concepts

  • Colpocephaly