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Phenotypic and molecular variability of the holoprosencephalic spectrum
Author(s) -
Lazaro Leila,
Dubourg Christéle,
Pasquier Laurent,
Duff Franck Le,
Blayau Martine,
Durou MarieRenée,
Pintière Armelle Thomas de la,
Aguilella Céline,
David Véronique,
Odent Sylvie
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30110
Subject(s) - holoprosencephaly , microcephaly , genetics , phenotype , mutation , compound heterozygosity , biology , psychomotor learning , gene , neuroscience , pregnancy , fetus , cognition
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. © 2004 Wiley‐Liss, Inc.