A rare recurring gain-of-function variant in BMPR2 causes neurodevelopmental phenotypes in humans and flies.

Jung-Wan Mok; Carrie L Welch; Haley A Dostalik; Zhi Tan; Ariel Brautbar; Maria DesCartes; Erica T Gray; Alejandro Iglesias; Scott D McLean; Morgan Nutter; Olivia Daugherty; Amber Begtrup; Ingrid M Wentzensen; Yufeng Shen; Damian W Young; Martin M Matzuk; Baylor College of Medicine Center for Precision Medicine Models; Oguz Kanca; Michael F Wangler; Hugo J Bellen; Wendy K Chung; Shinya Yamamoto

doi:10.1016/j.ajhg.2026.08.019

SCHEDA SCIENTIFICA2026Altra ricerca

A rare recurring gain-of-function variant in BMPR2 causes neurodevelopmental phenotypes in humans and flies.

Jung-Wan Mok, Carrie L Welch, Haley A Dostalik, Zhi Tan, Ariel Brautbar, Maria DesCartes, Erica T Gray, Alejandro Iglesias, Scott D McLean, Morgan Nutter, Olivia Daugherty, Amber Begtrup, Ingrid M Wentzensen, Yufeng Shen, Damian W Young, Martin M Matzuk, Baylor College of Medicine Center for Precision Medicine Models, Oguz Kanca, Michael F Wangler, Hugo J Bellen, Wendy K Chung, Shinya Yamamoto

American journal of human genetics · 2026

Neuroscienze Psicologia dello sviluppo

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Parole chiave

AnimalsHumansBone Morphogenetic Protein Receptors, Type IIDrosophila melanogasterPhenotypeGain of Function MutationFemaleMaleMutation, MissenseSignal TransductionNeurodevelopmental DisordersChildNeurodevelopmentChild, PreschoolBMPR2DrosophilaMendelian diseaseTGF-β/BMP signalingde novodisease modelingneurodevelopmental disorder

Come citare questo studio

Jung-Wan Mok, Carrie L Welch, Haley A Dostalik, Zhi Tan, Ariel Brautbar, Maria DesCartes, Erica T Gray, Alejandro Iglesias, Scott D McLean, Morgan Nutter, Olivia Daugherty, Amber Begtrup, Ingrid M Wentzensen, Yufeng Shen, Damian W Young, Martin M Matzuk, Baylor College of Medicine Center for Precision Medicine Models, Oguz Kanca, Michael F Wangler, Hugo J Bellen, Wendy K Chung, Shinya Yamamoto. (2026). A rare recurring gain-of-function variant in BMPR2 causes neurodevelopmental phenotypes in humans and flies.. American journal of human genetics. DOI: 10.1016/j.ajhg.2026.08.019

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