Abstract | CONTEXT: Several patients with Beckwith-Wiedemann Syndrome (BWS) with multiple imprinting defects found by genetic analysis have been described. However, only two cases have been described with both genetic and clinical signs and symptoms of multiple diseases caused by imprinting defects. CASE DESCRIPTION: CONCLUSIONS: Imprinting defects at several different loci can occur in some patients, thus causing multiple different diseases. Symptoms of pseudohypoparathyroidism type 1B may be absent at diagnosis of BWS, yet prolonged subclinical hypocalcemia and/or hyperphosphatemia can have negative consequences (eg, intracerebral calcifications, myocardial dysfunction). We therefore suggest that patients with an imprinting disorder should be monitored for elevations in PTH, and epigenetic analysis of the GNAS complex locus should be considered.
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Authors | Boudewijn Bakker, Laura J H Sonneveld, M Claire Woltering, Hennie Bikker, Sarina G Kant |
Journal | The Journal of clinical endocrinology and metabolism
(J Clin Endocrinol Metab)
Vol. 100
Issue 11
Pg. 3963-6
(Nov 2015)
ISSN: 1945-7197 [Electronic] United States |
PMID | 26367199
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Chromogranins
- KCNQ1OT1 long non-coding RNA, human
- Potassium Channels, Voltage-Gated
- RNA, Antisense
- GNAS protein, human
- GTP-Binding Protein alpha Subunits, Gs
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Topics |
- Beckwith-Wiedemann Syndrome
(complications, genetics, metabolism, physiopathology)
- Chromogranins
- DNA Methylation
- Disease Progression
- Down-Regulation
- Epigenesis, Genetic
- Exons
- Female
- GTP-Binding Protein alpha Subunits, Gs
(antagonists & inhibitors, genetics, metabolism)
- Genetic Loci
- Genomic Imprinting
- Hernia, Umbilical
(etiology)
- Humans
- Hyperphosphatemia
(etiology)
- Hypocalcemia
(etiology)
- Infant
- Pediatric Obesity
(etiology)
- Potassium Channels, Voltage-Gated
(genetics, metabolism)
- Pseudohypoparathyroidism
(complications, genetics, metabolism, physiopathology)
- RNA, Antisense
(metabolism)
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