Familial campomelic dysplasia due to maternal germinal mosaicism
| Autor: | Daisuke Higeta, Takeshi Takagi, Takashi Minegishi, Gen Nishimura, Kiyoko Sameshima, Kayoko Saito, Rie Yamaguchi |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Embryology Non-Mendelian inheritance Pathology medicine.medical_specialty business.industry Genetic counseling Karyotype General Medicine SOX9 030105 genetics & heredity medicine.disease Campomelic dysplasia 03 medical and health sciences 030104 developmental biology Germline mutation Dysplasia Pediatrics Perinatology and Child Health Medicine SOX9 Transcription Factor business Developmental Biology |
| Zdroj: | Congenital Anomalies. 58:194-197 |
| ISSN: | 0914-3505 |
| DOI: | 10.1111/cga.12279 |
| Popis: | Campomelic dysplasia is an autosomal dominant skeletal dysplasia caused by heterozygous SOX9 mutations. Most patients are sporadic due to a de novo mutation. Familial campomelic dysplasia is very rare. We report on a familial campomelic dysplasia caused by maternal germinal mosaicism. Two siblings showed the classic campomelic dysplasia phenotype with a novel SOX9 mutation (NM_000346.3: c.441delC, p.(Asn147Lysfs*36)). Radiological examination of the mother showed mild skeletal changes. Then, her somatic mosaicism of the mutation was ascertained. This is the first report of molecularly confirmed maternal germinal mosaicism for a SOX9 mutation. We suggest that a meticulous clinical examination of the parents, even if they are superficially healthy, is needed to avoid overlooking germinal mosaicism of SOX9 mutations. |
| Databáze: | OpenAIRE |
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