title: Phenotypic and molecular variability of the holoprosencephalic spectrum.
abstract: Since 1996, a European network has been organized from Rennes, France and holoprosencephalic files were collected for clinical and molecular study. Familial instances of typical and atypical holoprosencephaly (HPE) were found in 30% of cases. All affected children had psychomotor delay with microcephaly, often associated with endocrine, digestive, and respiratory abnormalities, and thermal dysregulation. Among 173 subjects in the molecular study, 28 heterozygous mutations were identified (16%): 15 SHH mutations, 6 ZIC2 mutations, 5 SIX3 mutations, and 2 TGIF mutations.
authors.affiliation: Génétique médicale, Centre Hospitalier Universitaire de Rennes, France.
authors.forename: Leila
authors.initials: L
authors.lastname: Lazaro
authors.forename: Christéle
authors.initials: C
authors.lastname: Dubourg
authors.forename: Laurent
authors.initials: L
authors.lastname: Pasquier
authors.forename: Franck
authors.initials: F
authors.lastname: Le Duff
authors.forename: Martine
authors.initials: M
authors.lastname: Blayau
authors.forename: Marie-Renée
authors.initials: MR
authors.lastname: Durou
authors.forename: Armelle Thomas
authors.initials: AT
authors.lastname: de la Pintière
authors.forename: Céline
authors.initials: C
authors.lastname: Aguilella
authors.forename: Véronique
authors.initials: V
authors.lastname: David
authors.forename: Sylvie
authors.initials: S
authors.lastname: Odent
mesh_terms: D000328:Adult; D001921:Brain / Q000002:abnormalities; D002648:Child; D004703:Endocrine System / Q000002:abnormalities; D005136:Eye Proteins; D005260:Female; D005333:Fetus; D041981:Gastrointestinal Tract / Q000002:abnormalities; D053823:Hedgehog Proteins; D016142:Holoprosencephaly / Q000235:genetics* / Q000473:pathology*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000473:pathology; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D009687:Nuclear Proteins; D010641:Phenotype; D011596:Psychomotor Disorders / Q000473:pathology; D012097:Repressor Proteins / Q000235:genetics; D012137:Respiratory System / Q000473:pathology; D015534:Trans-Activators / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D000097607:Homeobox Protein SIX3
chemical_list: D005136:Eye Proteins; D053823:Hedgehog Proteins; D018398:Homeodomain Proteins; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins; D015534:Trans-Activators; D014157:Transcription Factors; D000097607:Homeobox Protein SIX3; C509239:SHH protein, human; C097504:TGIF1 protein, human; C491812:ZIC2 protein, human