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Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene
- Source :
- Clinical Dysmorphology. 29:28-34
- Publication Year :
- 2020
- Publisher :
- Ovid Technologies (Wolters Kluwer Health), 2020.
-
Abstract
- Beckwith-Wiedemann syndrome (BWS) is a rare congenital overgrowth disorder characterised by macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralised overgrowth and predisposition to embryonal tumours. BWS results mainly from epigenetic changes at chromosome 11p15.5; however, heterozygous pathogenic variants on the maternal CDKN1C allele are observed in 5-8% of sporadic BWS cases. In this study, we report three sporadic BWS patients with novel pathogenic variants in the CDKN1C gene, including one missense (c.181T>C) and two frameshift (c.415_416dup, c.804delC). Detailed clinical evaluation of the patients showed variable manifestation of the disease and underlined the diagnostic challenge for BWS patients at various age of life. The child with the c.415_416dup variant presented with two rare features observed so far in only a few BWS patients with CDKN1C pathogenic variants: supernumerary flexion creases and agenesis of corpus callosum. Confirmation of these findings in another BWS patient adds to the broad clinical spectrum of the disease and suggests that presence of these features may be associated with CDKN1C pathogenic variants.
- Subjects :
- Adult
Pathology
medicine.medical_specialty
Beckwith-Wiedemann Syndrome
Mutation, Missense
Beckwith–Wiedemann syndrome
Corpus callosum
Pathology and Forensic Medicine
Frameshift mutation
03 medical and health sciences
medicine
Macroglossia
Humans
Missense mutation
Supernumerary
Allele
Frameshift Mutation
Cyclin-Dependent Kinase Inhibitor p57
Alleles
Genetics (clinical)
030304 developmental biology
0303 health sciences
business.industry
030305 genetics & heredity
Infant
General Medicine
medicine.disease
Child, Preschool
Agenesis
Pediatrics, Perinatology and Child Health
Female
Anatomy
medicine.symptom
business
Subjects
Details
- ISSN :
- 09628827
- Volume :
- 29
- Database :
- OpenAIRE
- Journal :
- Clinical Dysmorphology
- Accession number :
- edsair.doi.dedup.....80face1c8455e53005ac5925d3a92cea