Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability.

ABSTRACT:

Background

Intellectual disability syndromes (IDSs) with or without developmental delays affect up to 3% of the world population. We sought to clinically and genetically characterise a novel IDS segregating in five unrelated consanguineous families.

Methods

Clinical analyses were performed for eight patients with intellectual disability (ID). Whole-exome sequencing for selected participants followed by Sanger sequencing for all available family members was completed. Identity-by-descent (IBD) mapping was carried out for patients in two Egyptian families harbouring an identical variant. RNA was extracted from blood cells of Turkish participants, followed by cDNA synthesis and real-time PCR for TTC5.

Results

Phenotype comparisons of patients revealed shared clini

SUBMITTER: Rasheed A 

PROVIDER: S-EPMC9648057 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature