Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay

The Genetic Basis of Incomitant Strabismus: Consolidation of the Current Knowledge of the Genetic Foundations of Disease

“…26 Duplications in this chromosome locus can also produce developmental delay and particular facial features, including full cheeks, a specific lip shape, and horizontal and flared eyebrows, with or without DS. 27,28 The duplicated region of 8q12 includes CHD7 , implying that abnormal dosage of the transcribed protein may be a factor. 26,27 …”

“…27,28 The duplicated region of 8q12 includes CHD7 , implying that abnormal dosage of the transcribed protein may be a factor. 26,27 …”

Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome

“…The definition of the DURS1 locus was then expanded by reports of three patients with DRS and 8q12 microduplications who shared syndromic features of DRS, dysmorphism, neonatal hypotonia and motor developmental delay. (9-11) Analyses of studies performed to date (Fig. 1) reveal that the deleted and the duplicated chromosomal regions within the DURS1 locus are non-overlapping.…”

“…Chromosome analysis revealed a pericentric inversion of chromosome 8 between the centromere and the long arm and mosaicism for a supernumerary marker chromosome: 47,XY,inv(8)(p11.1q13.2),+mar [11]/46,XY,inv(8)(p11.1q13.2) [9] (Fig. 3A).…”

“…Recently, three patients with DRS were reported to harbor 8q12 microduplications [9][10][11]. Their phenotypes included DRS, sensorineural deafness, intellectual disabilities, hypotonia, dysmorphisms, and congenital heart and kidney defects [9][10][11]. The three patients share a 1.2 Mb duplicated region encompassing carbonic anhydrase VIII (CA8), RAS-associated protein RAB2 (RAB2A), chromodomain helicase DNA binding protein 7 (CHD7), and clavesin 1 (CLVS1) (Fig.…”