Universität zu Köln

Boppudi, S., Boegershausen, N., Hove, H. B., Percin, E. F., Aslan, D., Dvorsky, R., Kayhan, G., Li, Y., Cursiefen, C., Tantcheva-Poor, I., Toft, P. B., Bartsch, O., Lissewski, C., Wieland, I., Jakubiczka, S., Wollnik, B., Ahmadian, M. R., Heindl, L. M. and Zenker, M. (2016). Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis. Clin. Genet., 90 (4). S. 334 - 343. HOBOKEN: WILEY-BLACKWELL. ISSN 1399-0004

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Abstract

Oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL) are rare disorders that share many common features, such as epibulbar dermoids, aplasia cutis congenita, pigmentary changes following Blaschko lines, bony tumor-like lesions, and others. About 20 cases with OES and more than 50 patients with ECCL have been reported. Both diseases were proposed to represent mosaic disorders, but only very recently whole-genome sequencing has led to the identification of somatic KRAS mutations, p.Leu19Phe and p.Gly13Asp, in affected tissue from two individuals with OES. Here we report the results of molecular genetic studies in three patients with OES and one with ECCL. In all four cases, Sanger sequencing of the KRAS gene in DNA from lesional tissue detected mutations affecting codon 146 (p.Ala146Val, p.Ala146Thr) at variable levels of mosaicism. Our findings thus corroborate the evidence of OES being a mosaic RASopathy and confirm the common etiology of OES and ECCL. KRAS codon 146 mutations, as well as the previously reported OES-associated alterations, are known oncogenic KRAS mutations with distinct functional consequences. Considering the phenotype and genotype spectrum of mosaic RASopathies, these findings suggest that the wide phenotypic variability does not only depend on the tissue distribution but also on the specific genotype.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Boppudi, S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Boegershausen, N. UNSPECIFIED UNSPECIFIED UNSPECIFIED Hove, H. B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Percin, E. F. UNSPECIFIED UNSPECIFIED UNSPECIFIED Aslan, D. UNSPECIFIED UNSPECIFIED UNSPECIFIED Dvorsky, R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Kayhan, G. UNSPECIFIED UNSPECIFIED UNSPECIFIED Li, Y. UNSPECIFIED UNSPECIFIED UNSPECIFIED Cursiefen, C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Tantcheva-Poor, I. UNSPECIFIED UNSPECIFIED UNSPECIFIED Toft, P. B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Bartsch, O. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lissewski, C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Wieland, I. UNSPECIFIED UNSPECIFIED UNSPECIFIED Jakubiczka, S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Wollnik, B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Ahmadian, M. R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Heindl, L. M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Zenker, M. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-260868
DOI:	10.1111/cge.12775
Journal or Publication Title:	Clin. Genet.
Volume:	90
Number:	4
Page Range:	S. 334 - 343
Date:	2016
Publisher:	WILEY-BLACKWELL
Place of Publication:	HOBOKEN
ISSN:	1399-0004
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language CONGENITAL MELANOCYTIC NEVI; OCULO-ECTODERMAL SYNDROME; COSTELLO-SYNDROME; RAS MUTATIONS; SOMATIC MOSAICISM; HRAS MUTATION; SCHIMMELPENNING SYNDROME; DEVELOPMENTAL DISORDERS; SIGNAL-TRANSDUCTION; SEBACEUS SYNDROME Multiple languages Genetics & Heredity Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/26086