PT  - JOURNAL ARTICLE
AU  - Elson, E
AU  - Perveen, R
AU  - Donnai, D
AU  - Wall, S
AU  - Black, G C M
TI  - De novo <em>GLI3</em> mutation in acrocallosal syndrome: broadening the phenotypic spectrum of <em>GLI3</em> defects and overlap with murine models
AID  - 10.1136/jmg.39.11.804
DP  - 2002 Nov 01
TA  - Journal of Medical Genetics
PG  - 804--806
VI  - 39
IP  - 11
4099  - http://jmg.bmj.com/content/39/11/804.short
4100  - http://jmg.bmj.com/content/39/11/804.full
SO  - J Med Genet2002 Nov 01; 39
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.