Phenotypic and molecular variability of the holoprosencephalic spectrum.
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.
Lazaro
Leila
L
Génétique médicale, Centre Hospitalier Universitaire de Rennes, France.
Dubourg
Christéle
C
Pasquier
Laurent
L
Le Duff
Franck
F
Blayau
Martine
M
Durou
Marie-Renée
MR
de la Pintière
Armelle Thomas
AT
Aguilella
Céline
C
David
Véronique
V
Odent
Sylvie
S
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
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