A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome

• Published in: Nature genetics Vol. 47; no. 7; pp. 814 - 817
• Main Authors: Alakbarzade, Vafa, Hameed, Abdul, Quek, Debra Q Y, Chioza, Barry A, Baple, Emma L, Cazenave-Gassiot, Amaury, Nguyen, Long N, Wenk, Markus R, Ahmad, Arshia Q, Sreekantan-Nair, Ajith, Weedon, Michael N, Rich, Phil, Patton, Michael A, Warner, Thomas T, Silver, David L, Crosby, Andrew H
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.07.2015; Nature Publishing Group
• Subjects: 13/1; 45/23; 45/61; 631/208/207; 692/699/375/366; 82/58; Adolescent; Agriculture; Animal Genetics and Genomics; Animals; Base Sequence; Biological Transport; Biomedicine; Blood-Brain Barrier - metabolism; Brain research; Cancer Research; Case-Control Studies; Child; Child, Preschool; Families & family life; Fatty Acids, Omega-3 - metabolism; Female; Gene Function; Gene mutation; Genetic aspects; Genetic Association Studies; Genetic research; Genetic susceptibility; Genotype & phenotype; HEK293 Cells; Human Genetics; Humans; Identification and classification; Infant; letter; Ligands; Lysophosphatidylcholines - blood; Male; Medical research; Microcephaly; Microcephaly - blood; Microcephaly - genetics; Mutation; Mutation, Missense; Pedigree; Plasma; Properties; Proteins; Risk factors; Rodents; Sequence Analysis, DNA; Sodium; Syndrome; Transport proteins; Tumor Suppressor Proteins - genetics

Andrew Crosby, David Silver and colleagues show that a partially inactivating mutation in MFSD2A causes a non-lethal microcephaly syndrome with symptoms that include intellectual disability, spasticity and absent speech. Their findings indicate an essential role for lysophosphatidylcholine uptake in...