UFM1 founder mutation in the Roma population causes recessive variant of H-ABC

@inproceedings{Hamilton2017UFM1FM,
  title={UFM1 founder mutation in the Roma population causes recessive variant of H-ABC},
  author={Eline M.C. Hamilton and Enrico Bertini and Luba V Kalaydjieva and Bharti Morar and Dana Doj{\vc}{\'a}kov{\'a} and Judy S. H. Liu and Adeline Vanderver and Julian Curiel and Claudia M. Persoon and Daria Diodato and Lorenzo Pinelli and Nathalie L. van der Meij and Barbara R Plecko and Susan M Blaser and Nicole I Wolf and Quinten Waisfisz and Truus E. M. Abbink and Marjo S. van der Knaap},
  booktitle={Neurology},
  year={2017}
}
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… CONTINUE READING
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