Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad-Sakati syndrome.

ABSTRACT:

Objective

Permanent hypoparathyroidism can be presented as part of genetic disorders such as Sanjad-Sakati syndrome (also known as hypoparathyroidism-intellectual disability-dysmorphism), which is a rare autosomal recessive disorder. Our aim was to confirm the diagnosis of a group of patients with dysmorphism, poor growth, and hypoparathyroidism clinically labeled as Sanjad-Sakati syndrome and to identify for the first time the genetic variations on Iranian patients with the same ethnic origin.

Methods

In this study, 29 cases from 23 unrelated Arab kindreds with permanent hypoparathyroidism and dysmorphism indicating Sanjad-Sakati syndrome were enrolled for 10 years in the southwest of Iran. The mutational analysis by direct sequencing of the tubulin folding cofactor E gene

SUBMITTER: Aminzadeh M 

PROVIDER: S-EPMC9432144 | biostudies-literature | 2020 Jan - Feb

REPOSITORIES: biostudies-literature