Screening 25 Dystrophin Gene Exons for Deletions in Arab Children with Duchenne Muscular Dystrophy

Abstract

Forty-two Arab children with Duchenne muscular dystrophy (DMD) were studied for intragenic deletions in 25 exons of the dystrophin gene using three different multiplex PCR sets each amplifying a total of 9, 9 and 6 different exons, respectively. Exon 22 was amplified individually. Deletions were found in 78, 76 and 12% of DMD patients with each of the three sets, respectively. With all the three sets, the detection rate increased to 86% (36 of 42 patients). Fifty percent of the deleted exons were located in the distal hot spot, 8% in the proximal hot spot while 42% were scattered over both. This study, the first in an Arab population and only the second to use three PCR multiplex sets, documents one of the highest deletion detection rates in DMD.

Genetic and clinical profile of patients of Duchenne muscular dystrophy: Experience from a tertiary care center in Eastern India

“…The frequency of dystrophin gene deletions is reported to vary from 22% to 86% [6][7][8][9][15][16][17][18][19], which is in agreement with our study. Possibilities in the remaining cases were either point mutation and duplication or other rare variants of congenital dystrophy which mimic DMD in clinical presentation.…”

Duchenne muscular dystrophy: Study of double deletions and familial cases

“…The percentage of deletions (72.5%) seen in the present study matches with most Indian studies [13][14][15]17] and the sites of deletions are similar to the available information from studies of various populations [18][19][20][21][22][23][24][25][26].…”

Patterns of Dystrophin Gene Deletion/Duplication in a Sample of Saudi Patients with Duchenne Muscular Dystrophy

“…In spite that point mutation is very difficult to detect due to the enormous size (2.4 Mb) of the gene and its large transcript (14 kb) [21][22][23][24][25][26][27][28], however, we detected one patient with single nucleotide substitution (c.10033c>t) in Exon 69 and to our knowledge this mutation was not detected before by any other gene study in the region.…”