Universität zu Köln

Gangfuss, Andrea ORCID: 0000-0002-9975-0092, Yigit, Goekhan, Altmueller, Janine, Nuernberg, Peter, Czeschik, Johanna Christina, Wollnik, Bernd ORCID: 0000-0003-2589-0364, Boegershausen, Nina, Burfeind, Peter, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Kaiser, Frank, Roos, Andreas, Koelbel, Heike, Schara-Schmidt, Ulrike and Kuechler, Alma (2021). Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study. Am. J. Med. Genet. A, 185 (4). S. 1216 - 1222. HOBOKEN: WILEY. ISSN 1552-4833

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Abstract

Intellectual disability (ID) has an estimated prevalence of 1.5%-2%. Whole exome sequencing (WES) studies have identified a multitude of novel causative gene defects and have shown that sporadic ID cases result from de novo mutations in genes associated with ID. Here, we report on a 10-year-old girl, who has been regularly presented in our neuropediatric and genetic outpatient clinic. A median cleft palate and a heart defect were surgically corrected in infancy. Apart from ID, she has behavioral anomalies, muscular hypotonia, scoliosis, and hypermobile joints. The facial phenotype is characterized by arched eyebrows, mildly upslanting long palpebral fissures, prominent nasal tip, and large, protruding ears. Trio WES revealed a de novo missense variant in MEIS2 (c.998G>A; p.Arg333Lys). Haploinsufficiency of MEIS2 had been discussed as the most likely mechanism of the microdeletion 5q14-associated complex phenotype with ID, cleft palate, and heart defect. Recently, four studies including in total 17 individuals with intragenic MEIS2 variants were reported. Here we present the evolution of the clinical phenotype and compare with the data of known individuals.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Gangfuss, Andrea UNSPECIFIED orcid.org/0000-0002-9975-0092 UNSPECIFIED Yigit, Goekhan UNSPECIFIED UNSPECIFIED UNSPECIFIED Altmueller, Janine UNSPECIFIED UNSPECIFIED UNSPECIFIED Nuernberg, Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Czeschik, Johanna Christina UNSPECIFIED UNSPECIFIED UNSPECIFIED Wollnik, Bernd UNSPECIFIED orcid.org/0000-0003-2589-0364 UNSPECIFIED Boegershausen, Nina UNSPECIFIED UNSPECIFIED UNSPECIFIED Burfeind, Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Wieczorek, Dagmar UNSPECIFIED orcid.org/0000-0003-2812-6492 UNSPECIFIED Kaiser, Frank UNSPECIFIED UNSPECIFIED UNSPECIFIED Roos, Andreas UNSPECIFIED UNSPECIFIED UNSPECIFIED Koelbel, Heike UNSPECIFIED UNSPECIFIED UNSPECIFIED Schara-Schmidt, Ulrike UNSPECIFIED UNSPECIFIED UNSPECIFIED Kuechler, Alma UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-588760
DOI:	10.1002/ajmg.a.62070
Journal or Publication Title:	Am. J. Med. Genet. A
Volume:	185
Number:	4
Page Range:	S. 1216 - 1222
Date:	2021
Publisher:	WILEY
Place of Publication:	HOBOKEN
ISSN:	1552-4833
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language MENTAL-RETARDATION; DELETION; DISORDER; SPEECH; 15Q14 Multiple languages Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/58876