Open AccessIdentification of two novel homozygous nonsense mutations in TRAPPC9 in two unrelated consanguineous families with intellectual Disability from Iran
Author(s) -
Yousefipour Farideh,
Mozhdehipanah Hossein,
Mahjoubi Frouzandeh
Publication year - 2021
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.1610
Subject(s) - exome sequencing , multiplex ligation dependent probe amplification , genetics , intellectual disability , nonsense , consanguinity , proband , microcephaly , exon , global developmental delay , nonsense mutation , sanger sequencing , medicine , biology , mutation , missense mutation , gene , phenotype
ABSTRACT 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 patients from two unrelated consanguineous families of Iranian descent with intellectual disability. Results Whole‐exome sequencing showed two novel homozygous nonsense mutations (c.937C>T) in exon 3 and (c.3103C>T) in exon 19 of TRAPPC9 (NM_031466.7) in two unrelated consanguineous families. Conclusion The two novel variants found in TRAPPC9 caused truncated protein and clinical manifestations such as ID, developmental delay, microcephaly, and brain abnormalities in three patients.