Odelia Chorin, Guy Chowers, Rawan Agbariah, Shani Karklinsky, Ortal Barel, Ifat Bar-Joseph, Haike Reznik-Wolf, Jana Shamash, Ben Pode-Shakked, Jeffrey M Jacobson, Ruth Huna-Baron, Yael Redler, Irit Tirosh, Asaf Vivante, Annick Raas-Rothschild
Osteosclerotic metaphyseal dysplasia is a rare disorder which features osteosclerosis involving long bones, vertebrae, ribs, clavicles and the iliac crests. Additional features which have variably been reported include developmental delay, short stature, hypotonia and seizures. The disease is caused by pathogenic variants in the LRRK1 gene, and inherited in an autosomal recessive manner. We report three siblings (ages 14 years, 11.5 years and 0.9 years), born to consanguineous parents of Arab-Muslim descent, harboring a homozygous pathogenic variant in the LRRK1 gene (Chr15:101068759 AGGGGCT>A, c...
January 2022: European Journal of Medical Genetics