Article
RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis.
Nature communications - 16 Nov 2020
Farooq Muhammad, Lindbæk Louise, Krogh Nicolai, Doganli Canan, Keller Cecilie, Mönnich Maren, Gonçalves André Brás, Sakthivel Srinivasan, Mang Yuan, Fatima Ambrin, Andersen Vivi Søgaard, Hussain Muhammad S, Eiberg Hans, Hansen Lars, Kjaer Klaus Wilbrandt, Gopalakrishnan Jay, Pedersen Lotte Bang, Møllgård Kjeld, Nielsen Henrik, Baig Shahid M, Tommerup Niels, Christensen Søren Tvorup, Larsen Lars Allan
Abstract excerpt
Primary microcephaly (MCPH) is characterized by reduced brain size and intellectual disability. The exact pathophysiological mechanism underlying MCPH remains to be elucidated, but dysfunction of neuronal progenitors in the developing neocortex plays a major role. We identified a homozygous missense mutation (p.W155C) in Ribosomal RNA Processing 7 Homolog A, RRP7A, segregating with MCPH in a consanguineous family...
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