Universität zu Köln

Yigit, Goekhan, Wieczorek, Dagmar, Boegershausen, Nina, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Moeller-Hartmann, Claudia, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter and Wollnik, Bernd (2016). A Syndrome of Microcephaly, Short Stature, Polysyndactyly, and Dental Anomalies Caused by a Homozygous KATNB1 Mutation. Am. J. Med. Genet. A, 170 (3). S. 728 - 734. HOBOKEN: WILEY-BLACKWELL. ISSN 1552-4833

Full text not available from this repository.

Abstract

Using whole-exome sequencing, we identified a homozygous acceptor splice-site mutation in intron 6 of the KATNB1 gene in a patient from a consanguineous Turkish family who presented with congenital microcephaly, lissencephaly, short stature, polysyndactyly, and dental abnormalities. cDNA analysis revealed complete loss of the natural acceptor splice-site resulting either in the usage of an alternative, exonic acceptor splice-site inducing a frame-shift and premature protein truncation or, to a minor extent, in complete skipping of exon 7. Both effects most likely lead to complete loss of KATNB1 function. Homozygous and compound heterozygous mutations in KATNB1 have very recently been described as a cause of microcephaly with brain malformations and seizures. We extend the KATNB1 associated phenotype by describing a syndrome characterized by primordial dwarfism, lissencephaly, polysyndactyly, and dental anomalies, which is caused by a homozygous truncating KATNB1 mutation. (c) 2015 Wiley Periodicals, Inc.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Yigit, Goekhan UNSPECIFIED UNSPECIFIED UNSPECIFIED Wieczorek, Dagmar UNSPECIFIED UNSPECIFIED UNSPECIFIED Boegershausen, Nina UNSPECIFIED UNSPECIFIED UNSPECIFIED Beleggia, Filippo UNSPECIFIED orcid.org/0000-0003-0234-7094 UNSPECIFIED Moeller-Hartmann, Claudia UNSPECIFIED UNSPECIFIED UNSPECIFIED Altmueller, Janine UNSPECIFIED UNSPECIFIED UNSPECIFIED Thiele, Holger UNSPECIFIED UNSPECIFIED UNSPECIFIED Nuernberg, Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Wollnik, Bernd UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-283541
DOI:	10.1002/ajmg.a.37484
Journal or Publication Title:	Am. J. Med. Genet. A
Volume:	170
Number:	3
Page Range:	S. 728 - 734
Date:	2016
Publisher:	WILEY-BLACKWELL
Place of Publication:	HOBOKEN
ISSN:	1552-4833
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language PRIMORDIAL DWARFISM; CORTICAL DEVELOPMENT; CENTROSOMAL PROTEIN; MASTER REGULATOR; SECKEL-SYNDROME; CELL-DIVISION; SPINDLE POLE; KATANIN; MICROTUBULES; CENTRIOLE Multiple languages Genetics & Heredity Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/28354