Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Kroepfl, T; Petek, E; Schwarzbraun, T; Kroisel, PM; Plecko, B.
Mental retardation in a girl with a subtelomeric deletion on chromosome 20q and complete deletion of the myelin transcription factor 1 gene (MYT1).
Clin Genet. 2008; 73(5):492-495
Doi: 10.1111/j.1399-0004.2008.00982.x
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- Führende Autor*innen der Med Uni Graz
- Kroepfl Thomas
- Plecko Barbara
- Co-Autor*innen der Med Uni Graz
- Kroisel Peter
- Petek Erwin
- Schwarzbraun Thomas
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- Abstract:
- A great number of syndromes and inborn errors of metabolism associated with impaired development have been observed, but the aetiology of mental retardation remains unclear in a considerable proportion of cases. Here, we present the clinical and molecular data from a patient with a new de novo subtelomeric deletion on chromosome 20 [46,XX.ish del(20)(qter-)]. For further refinement, bacterial artificial chromosome clones are used. The deletion spans exactly two genes called MYT1 and PCMTD2. Both genes play an important role in myelination and regulating neural differentiation. Loss of these two genes seems to be responsible for the severe mental retardation and mild facial dysmorphic features in our young patient. It might show the phenotypic picture of this specified deletion.
- Find related publications in this database (using NLM MeSH Indexing)
- Child, Preschool -
- Chromosome Deletion -
- Chromosomes, Human, Pair 20 - genetics
- DNA-Binding Proteins - deficiency
- Female -
- Humans -
- Intellectual Disability - genetics
- Telomere - genetics
- Transcription Factors - deficiency