title: Minor form of trigonocephaly is an autistic skull shape? A suggestion based on homeobox gene variants and MECP2 mutations.
abstract: A possible role for Hoxa1 genotype in susceptibility to autism spectrum disorders was recently proposed. Furthermore, it has been demonstrated that Rett syndrome, which is categorized into pervasive developmental disorders the same as the autism spectrum disorders are, is associated with mutations in MECP2 gene. These findings suggest that the genetic backgrounds of these behavioral conditions may involve genes which also have an important role in the development of skull, because Hoxa1 is a key gene for skull development as well as for brain development and one of the clinical characteristics of Rett syndrome is deceleration in head growth. Together with this evolving knowledge, a series of ethical arguments concerning the indication of surgical treatment in patients with minor forms of trigonocephaly with autistic behaviors and/or hyperactivity leads us to hypothesize the presence of an autism subtype which may frequently be accompanied by specific morphological skull characteristics (autistic skull shape).
authors.affiliation: Institute for EGT, Satsuma-gun, Kagoshima, Japan. jyajya@po.synapse.ne.jp
authors.forename: S
authors.initials: S
authors.lastname: Ijichi
authors.forename: N
authors.initials: N
authors.lastname: Ijichi
mesh_terms: D001289:Attention Deficit Disorder with Hyperactivity / Q000235:genetics / Q000473:pathology; D001321:Autistic Disorder / Q000150:complications / Q000235:genetics / Q000473:pathology*; D002868:Chromosomal Proteins, Non-Histone; D041321:Chromosomes, Human, X / Q000235:genetics; D003398:Craniosynostoses / Q000150:complications / Q000235:genetics* / Q000523:psychology; D019175:DNA Methylation; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000502:physiology; D005314:Embryonic and Fetal Development; D005260:Female; D018507:Gene Expression Regulation, Developmental; D005801:Genes, Homeobox; D020022:Genetic Predisposition to Disease; D018398:Homeodomain Proteins / Q000235:genetics / Q000502:physiology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D051783:Methyl-CpG-Binding Protein 2; D009024:Morphogenesis; D009154:Mutation; D010641:Phenotype; D012097:Repressor Proteins; D015518:Rett Syndrome / Q000235:genetics / Q000473:pathology; D012886:Skull / Q000196:embryology / Q000473:pathology*; D014157:Transcription Factors / Q000235:genetics / Q000502:physiology; D000099261:Homeobox A1 Protein
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins; D014157:Transcription Factors; D000099261:Homeobox A1 Protein; C497392:MECP2 protein, human; C084119:MSX2 protein