Rosario Marín1, Miriam Ley-Martos2, Gema Gutiérrez3, Felicidad Rodríguez-Sánchez4, Diego Arroyo5, Francisco Mora-López6. 1. Clinical Genetics Unit, Hospital Universitario Puerta del Mar, Cádiz, Spain. genetica.hpm.sspa@juntadeandalucia.es. 2. Department of Paediatrics, Hospital Universitario Puerta del Mar, Cádiz, Spain. leymartos@gmail.com. 3. Department of Paediatrics, Hospital Universitario de Jerez, Jerez, Spain. gemamegga@gmail.com. 4. Division of Genetics, Human Anatomy Department, Universidad de Cádiz, Cádiz, Spain. felicidad.rodriguez@uca.es. 5. Progenie molecular S. L. Laboratory, Valencia, Spain. darroyo@progenie-molecular.com. 6. Molecular Diagnosis Laboratory, Immunology Department, Hospital Universitario Puerta del Mar, Cádiz, Spain. mora.francisco@gmail.com.
Abstract
UNLABELLED: Mutations in the L1CAM gene have been identified in the following various X-linked neurological disorders: congenital hydrocephalus; mental retardation, aphasia, shuffling gait, and adducted thumbs (MASA) syndrome; spastic paraplegia; and agenesis of the corpus callosum. These conditions are currently considered different phenotypes of a single entity known as L1 syndrome. We present three families with L1 syndrome. Sequencing of the L1CAM gene allowed the identification of the following mutations involved: a known splicing mutation (c.3531-12G>A) and two novel ones: a missense mutation (c.1754A>C; p.Asp585Ala) and a nonsense mutation (c.3478C>T; p.Gln1160Stop). The number of affected males and carrier females identified in a relatively small population suggests that L1 syndrome may be under-diagnosed. CONCLUSION: L1 syndrome should be considered in the differential diagnosis of intellectual disability or mental retardation in children, especially when other signs such as hydrocephalus or adducted thumbs are present.
UNLABELLED: Mutations in the L1CAM gene have been identified in the following various X-linked neurological disorders: congenital hydrocephalus; mental retardation, aphasia, shuffling gait, and adducted thumbs (MASA) syndrome; spastic paraplegia; and agenesis of the corpus callosum. These conditions are currently considered different phenotypes of a single entity known as L1 syndrome. We present three families with L1 syndrome. Sequencing of the L1CAM gene allowed the identification of the following mutations involved: a known splicing mutation (c.3531-12G>A) and two novel ones: a missense mutation (c.1754A>C; p.Asp585Ala) and a nonsense mutation (c.3478C>T; p.Gln1160Stop). The number of affected males and carrier females identified in a relatively small population suggests that L1 syndrome may be under-diagnosed. CONCLUSION:L1 syndrome should be considered in the differential diagnosis of intellectual disability or mental retardation in children, especially when other signs such as hydrocephalus or adducted thumbs are present.
Authors: J M A Verhagen; C T R M Schrander-Stumpel; M M J Blezer; J W Weber; J J P Schrander; M E Rubio-Gozalbo; J A Bakker; A P A Stegmann; Y J Vos; S G M Frints Journal: Eur J Med Genet Date: 2012-12-07 Impact factor: 2.708
Authors: Yvonne J Vos; Hermien E K de Walle; Krista K Bos; Jenneke A Stegeman; Annelies M Ten Berge; Martijn Bruining; Merel C van Maarle; Mariet W Elting; Nicolette S den Hollander; Ben Hamel; Ana Maria Fortuna; Lone E M Sunde; Irene Stolte-Dijkstra; Connie T R M Schrander-Stumpel; Robert M W Hofstra Journal: J Med Genet Date: 2009-10-20 Impact factor: 6.318
Authors: M Jouet; A Moncla; J Paterson; C McKeown; A Fryer; N Carpenter; E Holmberg; C Wadelius; S Kenwrick Journal: Am J Hum Genet Date: 1995-06 Impact factor: 11.025
Authors: Diego M Morales; Christopher D Smyser; Rowland H Han; Jeanette K Kenley; Joshua S Shimony; Tara A Smyser; Jennifer M Strahle; Terrie E Inder; David D Limbrick Journal: Neurosurgery Date: 2021-02-16 Impact factor: 4.654