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Article

Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity.

European journal of medical genetics - 1 Jan 2022

Chorin Odelia, Chowers Guy, Agbariah Rawan, Karklinsky Shani, Barel Ortal, Bar-Joseph Ifat, Reznik-Wolf Haike, Shamash Jana, Pode-Shakked Ben, Jacobson Jeffrey M, Huna-Baron Ruth, Redler Yael, Tirosh Irit, Vivante Asaf, Raas-Rothschild Annick

Abstract excerpt

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...

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PMID: 34798323
DOI: 10.1016/j.ejmg.2021.104383

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