Progressive brain atrophy in Schinzel–Giedion syndrome with a SETBP1 mutation

• Published in: European journal of medical genetics Vol. 58; no. 8; pp. 369 - 371
• Main Authors: Takeuchi, Akihito, Okamoto, Nobuhiko, Fujinaga, Shoko, Morita, Hirosuke, Shimizu, Junya, Akiyama, Tomoyuki, Ninomiya, Shinsuke, Takanashi, Jun-ichi, Kubo, Toshihide
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Masson SAS 01.08.2015
• Subjects: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - genetics; Abnormalities, Multiple - pathology; Atrophy - diagnosis; Atrophy - genetics; Atrophy - pathology; Brain - metabolism; Brain - pathology; Brain atrophy; Carrier Proteins - genetics; Craniofacial Abnormalities - diagnosis; Craniofacial Abnormalities - genetics; Craniofacial Abnormalities - pathology; Diffusion weighted imaging; Disease Progression; Exons; Gene Expression; Hand Deformities, Congenital - diagnosis; Hand Deformities, Congenital - genetics; Hand Deformities, Congenital - pathology; Heterozygote; Humans; Infant, Newborn; Intellectual Disability - diagnosis; Intellectual Disability - genetics; Intellectual Disability - pathology; Magnetic resonance imaging; Male; Medical Education; Mutation; Nails, Malformed - diagnosis; Nails, Malformed - genetics; Nails, Malformed - pathology; Nuclear Proteins - genetics; Schinzel-Giedion syndrome; Sequence Analysis, DNA; SETBP1; Spasms, Infantile - diagnosis; Spasms, Infantile - genetics; Spasms, Infantile - pathology; SETBP1; Magnetic resonance imaging; Schinzel-Giedion syndrome; Diffusion weighted imaging; Brain atrophy

Abstract Schinzel-Giedion syndrome is a rare congenital malformation syndrome. Recently, SETBP1 was identified as the causative gene. Herein, we present a Japanese boy with Schinzel-Giedion syndrome resulting from a novel mutation in SETBP1 in order to establish the clinical features and serial MRI...