RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

• Published in: American journal of human genetics Vol. 97; no. 6; pp. 862 - 868
• Main Authors: Shamseldin, Hanan, Alazami, Anas M., Manning, Melanie, Hashem, Amal, Caluseiu, Oana, Tabarki, Brahim, Esplin, Edward, Schelley, Susan, Innes, A. Micheil, Parboosingh, Jillian S., Lamont, Ryan, Majewski, Jacek, Bernier, Francois P., Alkuraya, Fowzan S.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 03.12.2015; Cell Press; Elsevier
• Subjects: Amino Acid Sequence; Animals; Brain; Brain - abnormalities; Brain - metabolism; Carrier Proteins - genetics; Cell Cycle Proteins; Child; Child, Preschool; ciliopathy; Collaboration; Consanguinity; Dwarfism; Dwarfism - genetics; Dwarfism - pathology; Exome; Exons; Families & family life; Gene Expression; Genes; Genotype & phenotype; Homozygote; Humans; Introns; lissencephaly; Male; Microcephaly - genetics; Microcephaly - pathology; Molecular Sequence Data; Mutation; Pedigree; primary cilium; primordial dwarfism; rotatin; Sequence Alignment; primary cilium; lissencephaly; primordial dwarfism; ciliopathy; rotatin

Primary microcephaly is a developmental brain anomaly that results from defective proliferation of neuroprogenitors in the germinal periventricular zone. More than a dozen genes are known to be mutated in autosomal-recessive primary microcephaly in isolation or in association with a more generalized...