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Article

Identification of two novel homozygous nonsense mutations in TRAPPC9 in two unrelated consanguineous families with intellectual Disability from Iran.

Molecular genetics & genomic medicine - 1 Dec 2021

Yousefipour Farideh, Mozhdehipanah Hossein, Mahjoubi Frouzandeh

Abstract excerpt

BACKGROUND: Pathogenic mutations in TRAPPC9 are associated with autosomal recessive Intellectual Disability (ID), a major public health issue that affects about 1-3% of children worldwide. METHOD: Clinical evaluation, magnetic resonance imaging, peripheral blood karyotype, Multiplex ligation-dependent probe amplification (MLPA), array CGH, and whole-exome sequencing were used to characterize etiology in three...

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PMID: 33513295
DOI: 10.1002/mgg3.1610
PMCID: PMC8683625

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