Bilateral Calcification of Basal Ganglia in a Patient with Duplication of Both 11q13.1q22.1 and 4q35.2 with New Phenotypic Features
| Autor: | Inas S. M. Sayed, Ola M. Eid, Amal M. Mohamed, Mohamed S. Abdel-Hamid, Ghada M H Abdel-Salam, Maha S. Zaki, Maha M. Eid |
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| Rok vydání: | 2019 |
| Předmět: |
Pathology
medicine.medical_specialty Basal ganglia calcification NDUFV1 Biology Basal Ganglia 03 medical and health sciences Chromosome Duplication Gene duplication Basal ganglia Genetics medicine Humans Child Molecular Biology Genetics (clinical) 030304 developmental biology 0303 health sciences Chromosomes Human Pair 11 030305 genetics & heredity Calcinosis medicine.disease Phenotype Chromosome Banding Karyotyping Aicardi–Goutières syndrome Female Chromosomes Human Pair 4 CLPB Calcification |
| Zdroj: | Cytogenetic and Genome Research. 159:130-136 |
| ISSN: | 1424-859X 1424-8581 |
| DOI: | 10.1159/000504075 |
| Popis: | We report on a female patient who presented with severe intellectual disability and autistic behavior, dysmorphic features, orodental anomalies, and bilateral calcification of basal ganglia. Using a high-density oligonucleotide microarray, we have identified a de novo duplication of 11q13.1q22.1 involving the dosage sensitive genes FGF3 and FGF4, genes related to autosomal dominant disorders KMT5B, GAL, SPTBN2, and LRP5, susceptibility loci SCZD2, SLEH1, and SHANK2, mitochondrial genes NDUFV1, NDUFS8, and TMEM126B, and many loss of function genes, including PHOX2A, CLPB, MED17, B3GNT1, LIPT2, and CLPB. However, the duplication did not involve Ribonuclease H2, subunit C (RNASEH2C) which is considered to be located in the critical region for Aicardi-Goutières syndrome. In combination with the duplication at 11q13.1, a 1.849-Mb heterozygous duplication at 4q35.2 was also identified. Although this duplicated region does not contain causative genes related to brain calcification, the duplication at 4q35 was reported previously in a patient with basal ganglia calcification, coats' like retinopathy, and glomerulosclerosis. Our patient's presentation and genomic findings indicate that duplication of 4q35.2 could be a novel genetic cause of calcification of basal ganglia. Our report also underscores the clinical significance of rearrangements in 11q13.1q22.1 in the pathogenesis of basal ganglia calcification. |
| Databáze: | OpenAIRE |
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