14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients

Celeste C. Eno, Jesper Graakjaer, Dea Svaneby, Mathilde Nizon, Jessica Kianmahd, Rebecca Signer, Julian A. Martinez-Agosto, Fabiola Quintero-Rivera*

*Corresponding author for this work

Research output: Contribution to journalJournal articleResearchpeer-review

Abstract

Three unrelated patients with similar microdeletions of chromosome 14q32.11 with shared phenotypes including language and developmental delay, and four overlapping genes -CALM1, TTC7B, PSMC1, and RPS6KA5 have been presented. All four genes are expressed in the brain and have haploinsufficiency scores, which reflect low tolerance to loss of function variation. An insight on the genes in the overlapping region, which may influence the resulting phenotype has been provided. Given the three patients' similar phenotypes and lack of normal variation in this region, it was suggested that this microdeletion may be associated with developmental and language delay.

Original languageEnglish
JournalAmerican Journal of Medical Genetics, Part A
Volume185
Issue number5
Pages (from-to)1519-1524
ISSN1552-4825
DOIs
Publication statusPublished - May 2021

Keywords

  • CALM1
  • developmental delay
  • microdeletion 14q32.11
  • PSMC1
  • RPS6KA5
  • TTC7B

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