A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability

Nadine Hamdan, Cybel Mehawej, Ghada Sebaaly, Nadine Jalkh, Sandra Corbani, Joelle Abou-Ghoch, O De Backer, Eliane Chouery

Research output: Contribution to journalArticlepeer-review

48 Downloads (Pure)


Intellectual disability (ID) is a neurodevelopmental disorder characterized by limitations in both intellectual and behavioral functioning. It can occur in non-syndromic and syndromic forms involving multiple organs. While the majority of genetic variants linked to ID are de novo, inherited variants are also detected in some forms. Here, we report a consanguineous Lebanese family presenting with an autosomal recessive syndromic ID characterized by neurodevelopmental delay, mild dysmorphic features, hearing impairment and endocrine dysfunction. Whole exome sequencing enabled the detection of the homozygous nonsense mutation in BOD1, p.R151X, in the proband. BOD1 is required for chromosomes biorientation during cell division. It also contributes to the regulation of cell survival and to the modulation of fatty acid metabolism. Another nonsense mutation in BOD1 was linked to ID in a consanguineous Iranian family. This is the second report of BOD1 mutations in humans and the first in a syndromic ID including gonadal dysfunction and high-frequency hearing impairment. Our findings confirm the involvement of BOD1 in cognitive functioning and expand the clinical spectrum of BOD1 deficiency.

Original languageEnglish
Pages (from-to)288-292
Number of pages5
JournalClinical genetics
Issue number3
Publication statusPublished - 1 Sept 2020


Dive into the research topics of 'A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability'. Together they form a unique fingerprint.

Cite this