Universität zu Köln

Li, Yun, Boegershausen, Nina, Alanay, Yasemin ORCID: 0000-0003-0683-9731, Kiper, Pelin Ozlem Simsek, Plume, Nadine, Keupp, Katharina, Pohl, Esther, Pawlik, Barbara, Rachwalski, Martin, Milz, Esther, Thoenes, Michaela, Albrecht, Beate, Prott, Eva-Christina, Lehmkuehler, Margret, Demuth, Stephanie, Utine, Gulen Eda, Boduroglu, Koray ORCID: 0000-0001-6260-1942, Frankenbusch, Katja, Borck, Guntram, Gillessen-Kaesbach, Gabriele, Yigit, Gokhan, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492 and Wollnik, Bernd (2011). A mutation screen in patients with Kabuki syndrome. Hum. Genet., 130 (6). S. 715 - 725. NEW YORK: SPRINGER. ISSN 0340-6717

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Abstract

Kabuki syndrome (KS) is one of the classical, clinically well-known multiple anomalies/mental retardation syndromes, mainly characterized by a very distinctive facial appearance in combination with additional clinical signs such as developmental delay, short stature, persistent fingerpads, and urogenital tract anomalies. In our study, we sequenced all 54 coding exons of the recently identified MLL2 gene in 34 patients with Kabuki syndrome. We identified 18 distinct mutations in 19 patients, 11 of 12 tested de novo. Mutations were located all over the gene and included three nonsense mutations, two splice-site mutations, six small deletions or insertions, and seven missense mutations. We compared frequencies of clinical symptoms in MLL2 mutation carriers versus non-carriers. MLL2 mutation carriers significantly more often presented with short stature and renal anomalies (p = 0.026 and 0.031, respectively), and in addition, MLL2 carriers obviously showed more frequently a typical facial gestalt (17/19) compared with non-carriers (9/15), although this result was not statistically significant (p = 0.1). Mutation-negative patients were subsequently tested for mutations in ten functional candidate genes (e.g. MLL, ASC2, ASH2L, and WDR5), but no convincing causative mutations could be found. Our results indicate that MLL2 is the major gene for Kabuki syndrome with a wide spectrum of de novo mutations and strongly suggest further genetic heterogeneity.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Li, Yun UNSPECIFIED UNSPECIFIED UNSPECIFIED Boegershausen, Nina UNSPECIFIED UNSPECIFIED UNSPECIFIED Alanay, Yasemin UNSPECIFIED orcid.org/0000-0003-0683-9731 UNSPECIFIED Kiper, Pelin Ozlem Simsek UNSPECIFIED UNSPECIFIED UNSPECIFIED Plume, Nadine UNSPECIFIED UNSPECIFIED UNSPECIFIED Keupp, Katharina UNSPECIFIED UNSPECIFIED UNSPECIFIED Pohl, Esther UNSPECIFIED UNSPECIFIED UNSPECIFIED Pawlik, Barbara UNSPECIFIED UNSPECIFIED UNSPECIFIED Rachwalski, Martin UNSPECIFIED UNSPECIFIED UNSPECIFIED Milz, Esther UNSPECIFIED UNSPECIFIED UNSPECIFIED Thoenes, Michaela UNSPECIFIED UNSPECIFIED UNSPECIFIED Albrecht, Beate UNSPECIFIED UNSPECIFIED UNSPECIFIED Prott, Eva-Christina UNSPECIFIED UNSPECIFIED UNSPECIFIED Lehmkuehler, Margret UNSPECIFIED UNSPECIFIED UNSPECIFIED Demuth, Stephanie UNSPECIFIED UNSPECIFIED UNSPECIFIED Utine, Gulen Eda UNSPECIFIED UNSPECIFIED UNSPECIFIED Boduroglu, Koray UNSPECIFIED orcid.org/0000-0001-6260-1942 UNSPECIFIED Frankenbusch, Katja UNSPECIFIED UNSPECIFIED UNSPECIFIED Borck, Guntram UNSPECIFIED UNSPECIFIED UNSPECIFIED Gillessen-Kaesbach, Gabriele UNSPECIFIED UNSPECIFIED UNSPECIFIED Yigit, Gokhan UNSPECIFIED UNSPECIFIED UNSPECIFIED Wieczorek, Dagmar UNSPECIFIED orcid.org/0000-0003-2812-6492 UNSPECIFIED Wollnik, Bernd UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-484574
DOI:	10.1007/s00439-011-1004-y
Journal or Publication Title:	Hum. Genet.
Volume:	130
Number:	6
Page Range:	S. 715 - 725
Date:	2011
Publisher:	SPRINGER
Place of Publication:	NEW YORK
ISSN:	0340-6717
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language NIIKAWA-KUROKI SYNDROME; MAKE-UP-SYNDROME; MENTAL-RETARDATION; GROWTH; EARS Multiple languages Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/48457