Variant Analysis of Alkaptonuria Families with Significant Founder Effect in Jordan.

ABSTRACT:

Background

Metabolic disorder alkaptonuria is an autosomal recessive disorder caused by mutations in the HGD gene, and a deficiency HGD enzyme activity results in an accumulation of homogentisic acid (HGA), ochronosis, and destruction of connective tissue.

Methods

We clinically evaluated 18 alkaptonuria patients (age range, 3 to 60 years) from four unrelated families. Furthermore, 11 out of 18 alkaptonuria patients and 7 unaffected members were enrolled for molecular investigations by utilizing Sanger sequencing to identify variants of the 14 exons of HGD gene.

Results

We found that the seven patients from the 4 unrelated families carried a recurrent pathogenic missense variant (c.365C>T, p. Ala122Val) in exon 6 of HGD gene. The variant was fully

SUBMITTER: Khalil R 

PROVIDER: S-EPMC8216811 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature