Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation : A clinical longitudinal study
| Autor: | Dagmar Wieczorek, Bernd Wollnik, Janine Altmüller, Johanna Christina Czeschik, Alma Kuechler, Heike Kölbel, Andrea Gangfuß, Peter Nürnberg, Gökhan Yigit, Peter Burfeind, Nina Bögershausen, Ulrike Schara-Schmidt, Andreas Roos, Frank J. Kaiser |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty Muscular hypotonia business.industry Medizin Scoliosis 030105 genetics & heredity medicine.disease 3. Good health 03 medical and health sciences 030104 developmental biology Long palpebral fissure Intellectual disability Genetics medicine Outpatient clinic Missense mutation Technology Platforms Haploinsufficiency business Genetics (clinical) Exome sequencing |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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