OPEN Human genomics | 8 Nov 2017
D Monies, HA Al-Shaar, EA Goljan, B Al-Younes, MMA Al-Breacan, MM Al-Saif, SM Wakil, BF Meyer, KSA Khabar and S Bohlega
Five affected individuals with syndromic tremulous dystonia, spasticity, and white matter disease from a consanguineous extended family covering a period of over 24 years are presented. A positional cloning approach utilizing genome-wide linkage, homozygozity mapping and whole exome sequencing was used for genetic characterization. The impact of a calmodulin-binding transcription activator 2, (CAMTA2) isoform 2, hypomorphic mutation on mRNA and protein abundance was studied using fluorescent reporter expression cassettes. Human brain sub-region cDNA libraries were used to study the expression pattern of CAMTA2 transcript variants.
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