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autosomal recessive intellectual disability 1

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neurodevelopmental disorder 1

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Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in , , and

Frontiers of Medicine doi: 10.1007/s11684-023-1006-x

Abstract: , whole-exome sequencing, and whole-genome sequencing were performed, and homozygous variants in TMEM141A Tmem141p.Trp90*/p.Trp90* mouse model was generated.on a human in vitro neuronal model (SH-SY5Y cells) with stable shRNA-mediated knockdown of TMEM141Conclusively, panoramic variation analysis revealed that multilocus genomic variations of TMEM141TMEM141 were responsible for syndromic ID.

Keywords： disorder     autosomal recessive intellectual disability     consanguinity     spastic paraplegia     hearing loss     TMEM141    

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Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in , , and

Journal Article