TY - JOUR AU - Monies, Dorota AU - Abou Al-Shaar, Hussam AU - Goljan, Ewa A. AU - Al-Younes, Banan AU - Al-Breacan, Muna Monther Abdullah AU - Al-Saif, Maher Mohammed AU - Wakil, Salma M. AU - Meyer, Brian F. AU - Khabar, Khalid S. A. AU - Bohlega, Saeed PY - 2017 DA - 2017/11/06 TI - Identification of a novel genetic locus underlying tremor and dystonia JO - Human Genomics SP - 25 VL - 11 IS - 1 AB - 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. SN - 1479-7364 UR - https://doi.org/10.1186/s40246-017-0123-5 DO - 10.1186/s40246-017-0123-5 ID - Monies2017 ER -