title: Microphthalmia with Linear Skin Defects (MLS) associated with Autism Spectrum Disorder (ASD) in a patient with Familial 12.9Mb Terminal Xp deletion.
abstract: BACKGROUND
  Microphthalmia with linear skin defects (MLS) syndrome is a rare X-linked dominant male-lethal developmental disorder characterized by unilateral or bilateral microphthalmia and linear skin defects of the face and neck. Additional features affecting the eyes, heart, brain or genitourinary system can occur, corroborating the intra- and interfamilial phenotypic variability. The majority of patients display monosomy of the Xp22.2 region, where the holocytochrome c-type synthase (HCCS) gene is located.
  
  
  METHODS
  We describe a 15-year-old-female affected by MLS syndrome and autism spectrum disorder (ASD). ASD has not previously been reported as a component of MLS. Our patient shows a large deletion of 12.9 Mb, involving Xp22.32-p22.2, which encompasses both the HCCS gene and autism X-linked genes.
  
  
  CONCLUSIONS
  Thus, patients with a large deletion at Xp22 might display MLS with ASD, due to the deletion of contiguous genes, although the highly variable phenotype of these patients could be influenced by several genetic mechanisms, including different tissue-specific X-inactivation and somatic mosaicism.
authors.affiliation: Child Neuropsychiatry Unit, Department of General Medicine, Neuroscience and Sensory Organs of the "Aldo Moro" University of Bari, Bari, Italy. lucia.margari@uniba.it.
authors.forename: Lucia
authors.initials: L
authors.lastname: Margari
authors.forename: Annalisa
authors.initials: A
authors.lastname: Colonna
authors.forename: Francesco
authors.initials: F
authors.lastname: Craig
authors.forename: Mattia
authors.initials: M
authors.lastname: Gentile
authors.forename: Giustina
authors.initials: G
authors.lastname: Giannella
authors.forename: Anna Linda
authors.initials: AL
authors.lastname: Lamanna
authors.forename: Anna Rosi
authors.initials: AR
authors.lastname: Legrottaglie
mesh_terms: D000293:Adolescent; D002659:Child Development Disorders, Pervasive / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D041321:Chromosomes, Human, X; D005260:Female; D017353:Gene Deletion; D040181:Genetic Diseases, X-Linked / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008850:Microphthalmos / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D012868:Skin Abnormalities / Q000150:complications / Q000175:diagnosis* / Q000235:genetics