RT Journal Article
SR Electronic
T1 De novo <em>GLI3</em> mutation in acrocallosal syndrome: broadening the phenotypic spectrum of <em>GLI3</em> defects and overlap with murine models
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 804
OP 806
DO 10.1136/jmg.39.11.804
VO 39
IS 11
A1 Elson, E
A1 Perveen, R
A1 Donnai, D
A1 Wall, S
A1 Black, G C M
YR 2002
UL http://jmg.bmj.com/content/39/11/804.abstract
AB Acrocallosal syndrome (ACS) is characterised by postaxial polydactyly, hallux duplication, macrocephaly, and absence of the corpus callosum, usually with severe developmental delay. The condition overlaps with Greig cephalopolysyndactyly syndrome (GCPS), an autosomal dominant disorder that results from mutations in the GLI3 gene. Here we report a child with agenesis of the corpus callosum and severe retardation, both cardinal features of ACS and rare in GCPS, who has a mutation in GLI3. Since others have excluded GLI3 in ACS, we suggest that ACS may represent a heterogeneous group of disorders that, in some cases, may result from a mutation in GLI3 and represent a severe, allelic form of GCPS. The finding is important for counselling families with suspected ACS.