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Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
Zung, A; Petek, E; Ben-Zeev, B; Schwarzbraun, T; Ben-Yehoshua, SJ.
MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome.
Am J Med Genet A. 2011; 155A(10):2469-2472
Doi: 10.1002/ajmg.a.33829
Web of Science
PubMed
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- Co-authors Med Uni Graz
- Petek Erwin
- Schwarzbraun Thomas
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- Abstract:
- Maturity-onset diabetes of the young type 2 (MODY2) is a form of monogenic diabetes, characterized by mild fasting hyperglycemia. MODY2 is caused by heterozygous mutations in the GCK gene that encodes the glucokinase enzyme. We describe the clinical features and the underlying genetic defect of MODY2 in a patient with atypical Greig cephalopolysyndactyly syndrome (GCPS). The patient presented with the limb formation and the craniofacial developmental abnormalities typical to GCPS, in addition to mental retardation and epilepsy (assigned as atypical syndrome). Fasting hyperglycemia in the diabetic range, impaired glucose tolerance, and lack of diabetes autoantibodies were compatible with MODY2. In order to delineate the genetic aberrations relevant both to MODY2 and Greig syndrome in this patient, we performed cytogenetic analysis, real-time PCR of the GCK gene, and comparative genomic hybridization (CGH) array. Cytogenetic study has shown a microscopic detectable deletion in the 7p13-15 chromosomal region. Real-time PCR demonstrated a deletion of the GCK gene in the patient but not her parents, and CGH array revealed a deleted region of approximately 12 Mb in the 7p13-15 region. This deleted region included GLI3 and GCK genes (where heterozygous mutations cause GCPS and MODY2, respectively), and many other contiguous genes. Our patient manifests a unique form of MODY2, where GCK gene deletion is part of a large deleted segment in the 7p13-15 chromosomal region.
- Find related publications in this database (using NLM MeSH Indexing)
- Acrocephalosyndactylia - genetics Acrocephalosyndactylia - pathology
- Autoantibodies - blood
- Chromosomes, Human, Pair 7 - genetics
- Comparative Genomic Hybridization -
- Cytogenetic Analysis -
- Diabetes Mellitus, Type 2 - genetics Diabetes Mellitus, Type 2 - pathology
- Gene Deletion -
- Glucose Intolerance - pathology
- Humans -
- Hyperglycemia - pathology
- Protein-Serine-Threonine Kinases - genetics
- Real-Time Polymerase Chain Reaction -
- Find related publications in this database (Keywords)
- MODY
- Greig
- contiguous gene deletion