Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.

doi:10.1016/j.ajhg.2021.04.025

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Article

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.

American journal of human genetics - 3 Jun 2021

Wright Caroline F, Quaife Nicholas M, Ramos-Hernández Laura, Danecek Petr, Ferla Matteo P, Samocha Kaitlin E, Kaplanis Joanna, Gardner Eugene J, Eberhardt Ruth Y, Chao Katherine R, Karczewski Konrad J, Morales Joannella, Gallone Giuseppe, Balasubramanian Meena, Banka Siddharth, Gompertz Lianne, Kerr Bronwyn, Kirby Amelia, Lynch Sally A, Morton Jenny E V, Pinz Hailey, Sansbury Francis H, Stewart Helen, Zuccarelli Britton D, Cook Stuart A, Taylor Jenny C, Juusola Jane, Retterer Kyle, Firth Helen V, Hurles Matthew E, Lara-Pezzi Enrique, Barton Paul J R, Whiffin Nicola

Abstract excerpt

Clinical genetic testing of protein-coding regions identifies a likely causative variant in only around half of developmental disorder (DD) cases. The contribution of regulatory variation in non-coding regions to rare disease, including DD, remains very poorly understood. We screened 9,858 probands from the Deciphering Developmental Disorders (DDD) study for de novo mutations in the 5' untranslated regions (5'...

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PMID: 34022131
DOI: 10.1016/j.ajhg.2021.04.025
PMCID: PMC8206381

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