Among them, there were nine functional mutations, and only the p.R201C in GLB1 was known to be damaging, confirming the diagnosis of the GM1-gangliosidosis in the studied family.
Taking into account these results, the p.Ser272Thr in EXOSC8 mutation could act as heterozygous-modifying factor that exacerbates the brain atrophy in the clinical presentation of our GM1 patients with homozygous GLB1 mutation.
We identified the first GLB1 mutation in Morocco and North Africa, the p.R201C, in patients with unusual phenotype extending the clinical spectrum of the GM1-gangliosidosis.
Modarresi et al., "Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene," BMC Medical Genetics, vol.
Trivedi et al., "Recurrent and novel GLB1 mutations in India," Gene, vol.
Vilageliu, "Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America," Clinical Genetics, vol.
Caption: Figure 5: Sanger sequencing plot of GLB1 showing the p.Arg201Cys mutation at heterozygous state in the father IV.1, the mother IV.2, and her sister IV.3 (a) and at homozygous state in patients V.1, V.2, and V.3 (b).
Parameter Trait Model variable estimate Green plants ps4129 -2.56 abg019 -3.30 dor4a -1.44 abg705 1.12 psr129*abg019 1.40 psr129*dor4a 0.92 abg019*dor4a 0.87 abg019*wg908 -0.77 abg019*ksuad17 1.30 dor4a*wg908 -0.89 wg908*abg705 -1.40 wg908*ksud17 -1.38 abg705*ksud17 1.53 Albino plants glb1
-0.88 abc171 -0.81 glb1*abc171 0.40 The responses of the 25 independently chosen DH lines were estimated based on the models presented in Table 2.