TY  - JOUR
A1  - Briegel, Wolfgang
A1  - Hoyer, Juliane
T1  - Psychiatric disorders and distal 21q deletion — a case report
JF  - International Journal of Environmental Research and Public Health
N2  - Partial deletion of chromosome 21q is a very rare genetic condition with highly variable phenotypic features including heart defects, high or cleft palate, brain malformations (e.g., cerebral atrophy), developmental delay and intellectual disability. So far, there is very limited knowledge about psychiatric disorders and their effective treatment in this special population. To fill this gap, the authors present the case of an initially five-year-old girl with distal deletion (del21q22.2) and comorbid oppositional defiant disorder (main psychiatric diagnosis) covering a period of time of almost four years comprising initial psychological/psychiatric assessment, subsequent treatment with Parent–Child Interaction Therapy (PCIT), and follow-up assessments. Post-intervention results including a 19-month follow-up indicated good overall efficacy of PCIT and high parental satisfaction with the treatment. This case report makes a substantial contribution to enhancing knowledge on psychiatric comorbidity and its effective treatment in patients with terminal 21q deletion. Moreover, it emphasizes the necessity of multidisciplinarity in diagnosis and treatment due to the variety of anomalies associated with 21q deletion. Regular screenings for psychiatric disorders and (if indicated) thorough psychological and psychiatric assessment seem to be reasonable in most affected children, as children with developmental delays are at increased risk of developing psychiatric disorders. As demonstrated with this case report, PCIT seems to be a good choice to effectively reduce disruptive behaviors in young children with partial deletion of chromosome 21q.
KW  - chromosome 21
KW  - distal deletion
KW  - 21q22.2-q22.3
KW  - oppositional defiant disorder
KW  - attention deficit/hyperactivity disorder
KW  - Parent–Child Interaction Therapy (PCIT)
KW  - case report
Y1  - 2020
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-203769
SN  - 1660-4601
VL  - 17
IS  - 9
ER  - 
TY  - JOUR
A1  - Zahnleiter, Diana
A1  - Uebe, Steffen
A1  - Ekici, Arif B.
A1  - Hoyer, Juliane
A1  - Wiesener, Antje
A1  - Wieczorek, Dagmar
A1  - Kunstmann, Erdmute
A1  - Reis, André
A1  - Doerr, Helmuth-Guenther
A1  - Rauch, Anita
A1  - Thiel, Christian T.
T1  - Rare Copy Number Variants Are a Common Cause of Short Stature
JF  - PLoS Genetics
N2  - Human growth has an estimated heritability of about 80%-90%. Nevertheless, the underlying cause of shortness of stature remains unknown in the majority of individuals. Genome-wide association studies (GWAS) showed that both common single nucleotide polymorphisms and copy number variants (CNVs) contribute to height variation under a polygenic model, although explaining only a small fraction of overall genetic variability in the general population. Under the hypothesis that severe forms of growth retardation might also be caused by major gene effects, we searched for rare CNVs in 200 families, 92 sporadic and 108 familial, with idiopathic short stature compared to 820 control individuals. Although similar in number, patients had overall significantly larger CNVs \((p-value <1 x 10^{-7})\). In a gene-based analysis of all non-polymorphic CNVs >50 kb for gene function, tissue expression, and murine knock-out phenotypes, we identified 10 duplications and 10 deletions ranging in size from 109 kb to 14 Mb, of which 7 were de novo (p < 0.03) and 13 inherited from the likewise affected parent but absent in controls. Patients with these likely disease causing 20 CNVs were smaller than the remaining group (p < 0.01). Eleven (55%) of these CNVs either overlapped with known microaberration syndromes associated with short stature or contained GWAS loci for height. Haploinsufficiency (HI) score and further expression profiling suggested dosage sensitivity of major growth-related genes at these loci. Overall 10% of patients carried a disease-causing CNV indicating that, like in neurodevelopmental disorders, rare CNVs are a frequent cause of severe growth retardation.
KW  - genetic skeletal disorders
KW  - microdeletion syndrome
KW  - mental retardation
KW  - growth failure
KW  - deletion
KW  - classification
KW  - association
KW  - mutations
KW  - genome
KW  - abnormalities
Y1  - 2013
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-127645
SN  - 1553-7404
VL  - 9
IS  - 3
ER  -