title: New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.
abstract: BACKGROUND
  CDH3 on 16q22.1 is responsible for two rare autosomal recessive disorders with hypotrichosis and progressive macular dystrophy: Hypotrichosis with Juvenile Macular Dystrophy and Ectodermal Dysplasia, Ectrodactyly and Macular Dystrophy. We present a new case of Hypotrichosis with Juvenile Macular Dystrophy.
  
  
  METHODS
  A Spanish male born in 1998 from non-consanguineous healthy parents with a suspected diagnosis of Keratosis Follicularis Spinulosa Decalvans and Retinitis Pigmentosa Inversa referred to our Genetics Department (IIS-Fundación Jiménez Díaz). Molecular study of ABCA4 was performed, and a heterozygous missense p.Val2050Leu variant in ABCA4 was found. Clinical revision reclassified this patient as Hypotrichosis with Juvenile Macular Dystrophy. Therefore, further CDH3 sequencing was performed showing a novel maternal missense change p.Val205Met (probably pathogenic by in silico analysis), and a previously reported paternal frameshift c.830del;p.Gly277Alafs*20, thus supporting the clinical diagnosis..
  
  
  CONCLUSIONS
  This is not only the first Spanish case with this clinical and molecular diagnosis, but a new mutation has been described in CDH3. Moreover, this work reflects the importance of joint assessment of clinical signs and evaluation of pedigree for a correct genetic study approach and diagnostic.
authors.affiliation: Department of Medical Genetics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz, (IIS-FJD, UAM), Madrid, Spain.|Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Instituto Carlos IIII (ISCIII), Madrid, Spain.
authors.forename: Fiona
authors.initials: F
authors.lastname: Blanco-Kelly
authors.affiliation: Department of Medical Genetics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz, (IIS-FJD, UAM), Madrid, Spain.
authors.forename: Luciana
authors.initials: L
authors.lastname: Rodrigues-Jacy da Silva
authors.affiliation: Department of Medical Genetics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz, (IIS-FJD, UAM), Madrid, Spain.
authors.forename: Iker
authors.initials: I
authors.lastname: Sanchez-Navarro
authors.affiliation: Department of Medical Genetics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz, (IIS-FJD, UAM), Madrid, Spain.|Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Instituto Carlos IIII (ISCIII), Madrid, Spain.
authors.forename: Rosa
authors.initials: R
authors.lastname: Riveiro-Alvarez
authors.affiliation: Department of Medical Genetics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz, (IIS-FJD, UAM), Madrid, Spain.
authors.forename: Miguel Angel
authors.initials: MA
authors.lastname: Lopez-Martinez
authors.affiliation: Department of Medical Genetics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz, (IIS-FJD, UAM), Madrid, Spain.|Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Instituto Carlos IIII (ISCIII), Madrid, Spain.
authors.forename: Marta
authors.initials: M
authors.lastname: Corton
authors.affiliation: Department of Medical Genetics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz, (IIS-FJD, UAM), Madrid, Spain. cayuso@fjd.es.|Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Instituto Carlos IIII (ISCIII), Madrid, Spain. cayuso@fjd.es.|Department of Genomics and Genetics, Fundación Jiménez Díaz University Hospital, Av. Reyes Católicos n° 2, 28040, Madrid, Spain. cayuso@fjd.es.
authors.forename: Carmen
authors.initials: C
authors.lastname: Ayuso
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D015820:Cadherins / Q000235:genetics*; D006801:Humans; D007039:Hypotrichosis / Q000151:congenital* / Q000235:genetics; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D055815:Young Adult
chemical_list: C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters; C512197:CDH3 protein, human; D015820:Cadherins
keywords: CDH3; Case report; Hypotrichosis; Macular dystrophy; Syndromic retinal dystrophy