Autosomal recessive macrocephaly/megalencephaly syndrome
Definition:
Autosomal recessive macrocephaly/megalencephaly syndrome (MGCPH) is characterized by intellectual disability, macro crania, and megalencephaly. Mutations in TBC1D7 were reported in patients. TBC1D7 forms a complex with TSC1 and TSC2 that inhibits mTORC1 signaling and limits cell growth.
References:
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[1]. Ali Abdullah Alfaiz, et al. TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease. Hum Mutat. 2014 Apr;35(4):447-51. [Content Brief]
[2]. José-Mario Capo-Chichi, et al. Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly. J Med Genet. 2013 Nov;50(11):740-4. [Content Brief]
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