Universität zu Köln

Di Donato, Nataliya ORCID: 0000-0001-9439-4677, Kuechler, Alma, Vergano, Samantha, Heinritz, Wolfram, Bodurtha, Joann, Merchant, Sabiha R., Breningstall, Galen, Ladda, Roger, Sell, Susan, Altmueller, Janine, Boegershausen, Nina, Timms, Andrew E., Hackmann, Karl, Schrock, Evelin, Collins, Sarah, Olds, Carissa, Rump, Andreas ORCID: 0000-0001-7116-6364 and Dobyns, William B. (2016). Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. Am. J. Med. Genet. A, 170 (10). S. 2644 - 2652. HOBOKEN: WILEY. ISSN 1552-4833

Full text not available from this repository.

Abstract

Baraitser-Winter cerebrofrontofacial syndrome is caused by heterozygous missense mutations in one of the two ubiquitous cytoplasmic actin-encoding genes ACTB and ACTG1. Recently, we characterized the large cohort of 41 patients presenting with this condition. Our series contained 34 patients with mutations in ACTB and only nine with ACTG1 mutations. Here, we report on seven unrelated patients with six mutations in ACTG1-four novel and two previously reported. Only one of seven patients was clinically diagnosed with this disorder and underwent ACTB/ACTG1 targeted sequencing, four patients were screened as a part of the large lissencephaly cohort and two were tested with exome sequencing. Retrospectively, facial features were compatible with the diagnosis but significantly milder than previously reported in four patients, and non-specific in one. The pattern of malformations of cortical development was highly similar in four of six patients with available MRI images and encompassed frontal predominant pachygyria merging with the posterior predominant band heterotopia. Two remaining patients showed mild involvement consistent with bilaterally simplified gyration over the frontal lobes. Taken together, we expand the clinical spectrum of the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome demonstrating the mild end of the facial and brain manifestations. (c) 2016 Wiley Periodicals, Inc.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Di Donato, Nataliya UNSPECIFIED orcid.org/0000-0001-9439-4677 UNSPECIFIED Kuechler, Alma UNSPECIFIED UNSPECIFIED UNSPECIFIED Vergano, Samantha UNSPECIFIED UNSPECIFIED UNSPECIFIED Heinritz, Wolfram UNSPECIFIED UNSPECIFIED UNSPECIFIED Bodurtha, Joann UNSPECIFIED UNSPECIFIED UNSPECIFIED Merchant, Sabiha R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Breningstall, Galen UNSPECIFIED UNSPECIFIED UNSPECIFIED Ladda, Roger UNSPECIFIED UNSPECIFIED UNSPECIFIED Sell, Susan UNSPECIFIED UNSPECIFIED UNSPECIFIED Altmueller, Janine UNSPECIFIED UNSPECIFIED UNSPECIFIED Boegershausen, Nina UNSPECIFIED UNSPECIFIED UNSPECIFIED Timms, Andrew E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Hackmann, Karl UNSPECIFIED UNSPECIFIED UNSPECIFIED Schrock, Evelin UNSPECIFIED UNSPECIFIED UNSPECIFIED Collins, Sarah UNSPECIFIED UNSPECIFIED UNSPECIFIED Olds, Carissa UNSPECIFIED UNSPECIFIED UNSPECIFIED Rump, Andreas UNSPECIFIED orcid.org/0000-0001-7116-6364 UNSPECIFIED Dobyns, William B. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-260026
DOI:	10.1002/ajmg.a.37771
Journal or Publication Title:	Am. J. Med. Genet. A
Volume:	170
Number:	10
Page Range:	S. 2644 - 2652
Date:	2016
Publisher:	WILEY
Place of Publication:	HOBOKEN
ISSN:	1552-4833
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language Genetics & Heredity Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/26002