Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.

doi:10.1016/j.ajhg.2019.03.004

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Article

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.

American journal of human genetics - 2 May 2019

Guo Long, Bertola Débora Romeo, Takanohashi Asako, Saito Asuka, Segawa Yuko, Yokota Takanori, Ishibashi Satoru, Nishida Yoichiro, Yamamoto Guilherme Lopes, Franco José Francisco da Silva, Honjo Rachel Sayuri, Kim Chong Ae, Musso Camila Manso, Timmons Margaret, Pizzino Amy, Taft Ryan J, Lajoie Bryan, Knight Melanie A, Fischbeck Kenneth H, Singleton Andrew B, Ferreira Carlos R, Wang Zheng, Yan Li, Garbern James Y, Simsek-Kiper Pelin O, Ohashi Hirofumi, Robey Pamela G, Boyde Alan, Matsumoto Naomichi, Miyake Noriko, Spranger Jürgen, Schiffmann Raphael, Vanderver Adeline, Nishimura Gen, Passos-Bueno Maria Rita Dos Santos, Simons Cas, Ishikawa Kinya, Ikegawa Shiro

Abstract excerpt

Colony stimulating factor 1 receptor (CSF1R) plays key roles in regulating development and function of the monocyte/macrophage lineage, including microglia and osteoclasts. Mono-allelic mutations of CSF1R are known to cause hereditary diffuse leukoencephalopathy with spheroids (HDLS), an adult-onset progressive neurodegenerative disorder. Here, we report seven affected individuals from three unrelated families...

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PMID: 30982609
DOI: 10.1016/j.ajhg.2019.03.004
PMCID: PMC6507048

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CSF1R

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Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.PMID 30982609Read ↗

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