title: [Schinzel-Giedion syndrome: a new mutation in SETBP1].
abstract: Schinzel-Giedion syndrome (SGS) (#MIM 269150) is a rare genetic disorder characterized by very marked craniofacial dysmorphism, multiple congenital anomalies and severe intellectual disability. Most affected patients die in early childhood. SETBP1 was identified as the causative gene, but a limited number of patients with molecular confirmation have been reported to date. The case is reported of a 4 and a half year-old male patient, affected by SGS. SETBP1 sequencing analysis revealed the presence of a non-previously described mutation: c.2608G>T (p.Gly870Cys). The clinical features and differential diagnosis of this rare condition are reviewed. Dysmorphic features are strongly suggestive of SGS. Its clinical recognition is essential to enable an early diagnosis, a proper follow-up, and to provide the family with genetic counseling. To date, this is the seventeenth SGS patient published with SETBP1 mutation, and the first in Spain, helping to widen clinical and molecular knowledge of the disease.
authors.affiliation: Sección de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, Murcia, España; Grupo Clínico Vinculado al Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, España. Electronic address: vanesa.lopez2@carm.es.
authors.forename: V
authors.initials: V
authors.lastname: López-González
authors.affiliation: Grupo Clínico Vinculado al Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, España; Sección de Neuropediatría, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, España.
authors.forename: M R
authors.initials: MR
authors.lastname: Domingo-Jiménez
authors.affiliation: Centre de Référence Maladies Rares «malformations et maladies congénitales du cervelet», Hôpital Trousseau-Paris, CHU de Lyon, CHU de Lille, París, Francia.
authors.forename: L
authors.initials: L
authors.lastname: Burglen
authors.affiliation: Sección de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, Murcia, España; Grupo Clínico Vinculado al Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, España.
authors.forename: M J
authors.initials: MJ
authors.lastname: Ballesta-Martínez
authors.affiliation: Unité Fonctionnelle de Génétique Clinique, Hôpital Armand Trousseau, Paris, Francia.
authors.forename: S
authors.initials: S
authors.lastname: Whalen
authors.affiliation: Sección de Nefrología Infantil, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, España.
authors.forename: J A
authors.initials: JA
authors.lastname: Piñero-Fernández
authors.affiliation: Sección de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, Murcia, España; Grupo Clínico Vinculado al Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, España; Cátedra de Genética Médica, UCAM-Universidad Católica de Murcia, Murcia, España. Electronic address: eguillen@ucam.edu.
authors.forename: E
authors.initials: E
authors.lastname: Guillén-Navarro
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009154:Mutation; D009264:Nails, Malformed / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D013030:Spain
chemical_list: D002352:Carrier Proteins; D009687:Nuclear Proteins; C425066:SETBP1 protein, human
keywords: Anomalías craneofaciales; Anomalías múltiples; Craniofacial abnormalities; Discapacidad intelectual; Exoftalmos; Exophthalmos; Hipertricosis; Hipoplasia mediofacial; Hypertrichosis; Intellectual disability; Mid-face retraction; Multiple abnormalities; SETBP1Gen; SETBP1gene; Schinzel-Giedion syndrome; Síndrome Schinzel-Giedion