Universität zu Köln

Schulz, Yvonne, Freese, Luisa, Maenz, Johanna, Zoll, Barbara, Voelter, Christiane, Brockmann, Knut, Boegershausen, Nina, Becker, Jutta, Wollnik, Bernd and Pauli, Silke (2014). CHARGE and Kabuki syndromes: a phenotypic and molecular link. Hum. Mol. Genet., 23 (16). S. 4396 - 4406. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

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Abstract

Here, we report a patient, who was initially diagnosed with CHARGE syndrome based on the spectrum of inner organ malformations like choanal hypoplasia, heart defect, anal atresia, vision problems and conductive hearing impairment. While sequencing and MLPA analysis of all coding exons of CHD7 revealed no pathogenic mutation, sequence analysis of the KMT2D gene identified the heterozygous de novo nonsense mutation c.5263C > T (p.Gln1755*). Thus, our patient was diagnosed with Kabuki syndrome. By using co-immunoprecipitation, immunohistochemistry and direct yeast two hybrid assays, we could show that, like KMT2D, CHD7 interacts with members of the WAR complex, namely WDR5, ASH2L and RbBP5. We therefore propose that CHD7 and KMT2D function in the same chromatin modification machinery, thus pointing out a mechanistic connection, and presenting a probable explanation for the phenotypic overlap between Kabuki and CHARGE syndromes.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Schulz, Yvonne UNSPECIFIED UNSPECIFIED UNSPECIFIED Freese, Luisa UNSPECIFIED UNSPECIFIED UNSPECIFIED Maenz, Johanna UNSPECIFIED UNSPECIFIED UNSPECIFIED Zoll, Barbara UNSPECIFIED UNSPECIFIED UNSPECIFIED Voelter, Christiane UNSPECIFIED UNSPECIFIED UNSPECIFIED Brockmann, Knut UNSPECIFIED UNSPECIFIED UNSPECIFIED Boegershausen, Nina UNSPECIFIED UNSPECIFIED UNSPECIFIED Becker, Jutta UNSPECIFIED UNSPECIFIED UNSPECIFIED Wollnik, Bernd UNSPECIFIED UNSPECIFIED UNSPECIFIED Pauli, Silke UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-431948
DOI:	10.1093/hmg/ddu156
Journal or Publication Title:	Hum. Mol. Genet.
Volume:	23
Number:	16
Page Range:	S. 4396 - 4406
Date:	2014
Publisher:	OXFORD UNIV PRESS
Place of Publication:	OXFORD
ISSN:	1460-2083
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language POSITIVE REGULATOR; MENTAL-RETARDATION; GENE-EXPRESSION; TARGET GENES; CHD7; ASSOCIATION; MUTATIONS; ANOMALIES; PROTEIN; METHYLTRANSFERASES Multiple languages Biochemistry & Molecular Biology; Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/43194