Article
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.
Neuron - 16 Oct 2013
Ruzzo Elizabeth K, Capo-Chichi José-Mario, Ben-Zeev Bruria, Chitayat David, Mao Hanqian, Pappas Andrea L, Hitomi Yuki, Lu Yi-Fan, Yao Xiaodi, Hamdan Fadi F, Pelak Kimberly, Reznik-Wolf Haike, Bar-Joseph Ifat, Oz-Levi Danit, Lev Dorit, Lerman-Sagie Tally, Leshinsky-Silver Esther, Anikster Yair, Ben-Asher Edna, Olender Tsviya, Colleaux Laurence, Décarie Jean-Claude, Blaser Susan, Banwell Brenda, Joshi Rasesh B, He Xiao-Ping, Patry Lysanne, Silver Rachel J, Dobrzeniecka Sylvia, Islam Mohammad S, Hasnat Abul, Samuels Mark E, Aryal Dipendra K, Rodriguiz Ramona M, Jiang Yong-Hui, Wetsel William C, McNamara James O, Rouleau Guy A, Silver Debra L, Lancet Doron, Pras Elon, Mitchell Grant A, Michaud Jacques L, Goldstein David B
Abstract excerpt
We analyzed four families that presented with a similar condition characterized by congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable seizures. We show that recessive mutations in the ASNS gene are responsible for this syndrome. Two of the identified missense mutations dramatically reduce ASNS protein abundance, suggesting that the mutations cause loss of function....
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