title: A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation.
abstract: We describe a novel recognizable phenotype characterized by anophthalmia, a distinctive skeletal dysplasia and intellectual disability. Radiographic anomalies include severe rhizomelic shortness of the limbs and abnormal joint formation. Recent exome studies showed that these characteristics are part of the phenotypic spectrum of MAB21L2 gene mutations which cause a range of structural eye malformations such as microphthalmia/anophthalmia and ocular coloboma. The two unrelated individuals described here in detail are heterozygous carriers of the same de novo missense mutation c.151C > T (p.Arg51Cys) in MAB21L2.
authors.affiliation: Institut für Medizinische Genetik und Humangenetik, Charité-Universitätsmedizin Berlin, Berlin, Germany. Electronic address: denise.horn@charite.de.
authors.forename: Denise
authors.initials: D
authors.lastname: Horn
authors.affiliation: Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
authors.forename: Trine
authors.initials: T
authors.lastname: Prescott
authors.affiliation: Center for Medical Genetics, Haukeland University Hospital, Bergen, Norway.
authors.forename: Gunnar
authors.initials: G
authors.lastname: Houge
authors.affiliation: Department of Pediatrics, Oslo University Hospital, Oslo, Norway.
authors.forename: Kristin
authors.initials: K
authors.lastname: Brække
authors.affiliation: Department of Clinical Medicine 1, University of Bergen, Norway; Haukeland University Hospital, Bergen, Norway.
authors.forename: Karen
authors.initials: K
authors.lastname: Rosendahl
authors.affiliation: Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.affiliation: MRC Human Genetics Unit, MRC Institute of Medical Genetic and Molecular Medicine, Edinburgh, UK.
authors.forename: David R
authors.initials: DR
authors.lastname: FitzPatrick
authors.affiliation: Im Fuchsberg 14, Sinzheim, Germany.
authors.forename: Jürgen
authors.initials: J
authors.lastname: Spranger
mesh_terms: D000293:Adolescent; D000328:Adult; D000853:Anophthalmos / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D001848:Bone Diseases, Developmental / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D059472:Exome; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D015870:Gene Expression; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome
chemical_list: D005136:Eye Proteins; D047908:Intracellular Signaling Peptides and Proteins; C000589992:MAB21L2 protein, human
keywords: Anophthalmia; Intellectual disability; MAB21L2; Rhizomelia