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Article

HERC1 mutations in idiopathic intellectual disability.

European journal of medical genetics - 1 May 2017

Utine G Eda, Taşkıran Ekim Z, Koşukcu Can, Karaosmanoğlu Beren, Güleray Naz, Doğan Özlem Akgün, Kiper P Özlem Şimşek, Boduroğlu Koray, Alikaşifoğlu Mehmet

Abstract excerpt

HERC1 is a member of HERC protein family of ubiquitin ligases and is a negative regulator of the mTOR pathway. It is also a guanine nucleotide exchange factor for ARF and Rab family GTPases. Biallelic mutations in HERC1 were recently shown to cause a human phenotype with overgrowth and intellectual disability as main features. Herein we describe clinical features in another patient with homozygous novel mutation...

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Identifiers

PMID: 28323226
DOI: 10.1016/j.ejmg.2017.03.007

Genes

HERC1

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