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Mutations in the SLC17A9 gene, encoding a vacuolar proton-translocating ATPase, have been associated with leukodystrophy or suspected to cause a part of clinically isolated ichthyosis. We describe a French cohort of three boys and four girls with a previously unreported phenotype of “atypical” leukodystrophy, characterized by rapidly progressive psychomotor regression, associated with cerebellar dysmyelination and hypomyelination of the brainstem. Four of the patients carry the p.N62S/p.N298S heterozygous mutations in SLC17A9, and a further patient carries a novel compound heterozygous SLC17A9 mutation. The observation of this novel phenotype in a European patient cohort highlights the importance of SLC17A9 mutations as a cause of leukodystrophy and demonstrates the need for broadening the phenotype of leukodystrophies by also taking into account less typical presentations of leukodystrophy. – 160 = 0 for z.
Solve 2*j = -w + 38 + 6, -122 = -11*j + 3*w for j.
Solve j = 2*l – 5, -223*j + 227*j + l = 20 for j.
Solve -160*u + 6*w – 18 = -162*u, 5*u – 5*w = -15 for u.
Solve -3*a = -41*x – 276, -x + 18 = -3*a – 22 for a.
Solve -5*r = -2*j + 20, -22*j + 2*r – 55 = -25*j for j.
Solve b – 8 = -u, -12*b + 4*u = -9*b + 4 for b.