A de novo GLI3 mutation in a patient with acrocallosal syndrome. Issue 6 (30th April 2013)

• Record Type: Journal Article
• Authors: Speksnijder, Leonie; Cohen‐Overbeek, Titia E.; Knapen, Maarten F.C.M.; Lunshof, Simone M.; Hoogeboom, A. Jeannette M.; van den Ouwenland, Ans M.; de Coo, Irenaneus F.M.; Lequin, Maarten H.; Bolz, Hanno J.; Bergmann, Carsten; Biesecker, Leslie G.; Willems, Patrick J.; Wessels, Marja W.
• Is Part Of: American journal of medical genetics. Volume 161:Issue 6(2013:Jun.)
• Page Start: 1394
• Page End: 1400
• Publication Date: 2013-04-30
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.35874
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="ajmga35874-sec-0001" sec-type="section"> <p>Acrocallosal syndrome is characterized by postaxial polydactyly, macrocephaly, agenesis of the corpus callosum, and severe developmental delay. In a few patients with this disorder, a mutation in the <italic>KIF7</italic> gene has been reported, which was associated with impaired GLI3 processing and dysregulaton of GLI3 transcription factors. A single patient with acrocallosal syndrome and a de novo p.Ala934Pro mutation in GLI3 has been reported, whereas diverse and numerous <italic>GLI3</italic> mutations have also been described in syndromes with overlapping clinical manifestations, including Greig cephalopolysyndactyly syndrome, Pallister–Hall syndrome, trigonocephaly with craniosynostosis and polydactyly, oral–facial‐digital syndrome, and non‐syndromic polydactyly. Here, we describe a second patient with acrocallosal syndrome, who has a de novo, novel c.2786T &gt; C mutation in <italic>GLI3</italic>, which predicts p.Leu929Pro. This mutation is in the same domain as the mutation in the previously reported patient. These data confirm that mutations in <italic>GLI3</italic> are a cause of the acrocallosal phenotype. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>