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Article

TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease.

Human mutation - 1 Apr 2014

Alfaiz Ali Abdullah, Micale Lucia, Mandriani Barbara, Augello Bartolomeo, Pellico Maria Teresa, Chrast Jacqueline, Xenarios Ioannis, Zelante Leopoldo, Merla Giuseppe, Reymond Alexandre

Abstract excerpt

TBC1D7 forms a complex with TSC1 and TSC2 that inhibits mTORC1 signaling and limits cell growth. Mutations in TBC1D7 were reported in a family with intellectual disability (ID) and macrocrania. Using exome sequencing, we identified two sisters homozygote for the novel c.17_20delAGAG, p.R7TfsX21 TBC1D7 truncating mutation. In addition to the already described macrocephaly and mild ID, they share osteoarticular...

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Source

Identifiers

PMID: 24515783
DOI: 10.1002/humu.22529

Genes

TSC1
TSC2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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