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.

Original languageEnglish
Pages (from-to)733-737
Number of pages5
JournalEuropean Journal of Medical Genetics
Issue number12
Early online date5 Jun 2018
Publication statusPublished - 1 Dec 2018

    Research areas

  • Journal Article

ID: 38138125