Publication: UFM1 founder mutation in the Roma population causes recessive variant of H-ABC
UFM1 founder mutation in the Roma population causes recessive variant of H-ABC
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Hamilton, E. M. C., Bertini, E., Kalaydjieva, L., Morar, B., Dojčáková, D., Liu, J., Vanderver, A., Curiel, J., Persoon, C. M., Diodato, D., Pinelli, L., van der Meij, N. L., Plecko, B., Blaser, S., Wolf, N. I., Waisfisz, Q., Abbink, T. E. M., van der Knaap, M. S., & Recessive H-ABC Research Group. (2017). UFM1 founder mutation in the Roma population causes recessive variant of H-ABC. Neurology, 89, 1821–1828. https://doi.org/10.1212/WNL.0000000000004578
Abstract
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Objective: To identify the gene defect in patients with hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) who are negative for TUBB4A mutations. Methods: We performed homozygosity mapping and whole exome sequencing (WES) to detect the disease-causing variant. We used a Taqman assay for population screening. We developed a luciferase reporter construct to investigate the effect of the promoter mutation on expression. Results: Sixteen patients from 14 families from different countries fulfilling the MRI criteria f
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- Hamilton, Eline M C
- Bertini, Enrico
- Kalaydjieva, Luba
- Morar, Bharti
- Dojčáková, Dana
- Liu, Judy
- Vanderver, Adeline
- Curiel, Julian
- Persoon, Claudia M
- Pinelli, Lorenzo
- van der Meij, Nathalie L
- Plecko, Barbara
- Blaser, Susan
- Wolf, Nicole I
- Waisfisz, Quinten
- Abbink, Truus E M
- van der Knaap, Marjo S
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Hamilton, E. M. C., Bertini, E., Kalaydjieva, L., Morar, B., Dojčáková, D., Liu, J., Vanderver, A., Curiel, J., Persoon, C. M., Diodato, D., Pinelli, L., van der Meij, N. L., Plecko, B., Blaser, S., Wolf, N. I., Waisfisz, Q., Abbink, T. E. M., van der Knaap, M. S., & Recessive H-ABC Research Group. (2017). UFM1 founder mutation in the Roma population causes recessive variant of H-ABC. Neurology, 89, 1821–1828. https://doi.org/10.1212/WNL.0000000000004578
