Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.

doi:10.1038/s41467-020-17452-6

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Article

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.

Nature communications - 23 Jul 2020

Lee Yu-Ri, Khan Kamal, Armfield-Uhas Kim, Srikanth Sujata, Thompson Nicola A, Pardo Mercedes, Yu Lu, Norris Joy W, Peng Yunhui, Gripp Karen W, Aleck Kirk A, Li Chumei, Spence Ed, Choi Tae-Ik, Kwon Soo Jeong, Park Hee-Moon, Yu Daseuli, Heo Won Do, Mooney Marie R, Baig Shahid M, Wentzensen Ingrid M, Telegrafi Aida, McWalter Kirsty, Moreland Trevor, Roadhouse Chelsea, Ramsey Keri, Lyons Michael J, Skinner Cindy, Alexov Emil, Katsanis Nicholas, Stevenson Roger E, Choudhary Jyoti S, Adams David J, Kim Cheol-Hee, Davis Erica E, Schwartz Charles E

Abstract excerpt

Intellectual disability (ID) is a heterogeneous clinical entity and includes an excess of males who harbor variants on the X-chromosome (XLID). We report rare FAM50A missense variants in the original Armfield XLID syndrome family localized in Xq28 and four additional unrelated males with overlapping features. Our fam50a knockout (KO) zebrafish model exhibits abnormal neurogenesis and craniofacial patterning, and...

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PMID: 32703943
DOI: 10.1038/s41467-020-17452-6
PMCID: PMC7378245

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