Familial campomelic dysplasia due to maternal germinal mosaicism. (2nd April 2018)

• Record Type: Journal Article
• Authors: Higeta, Daisuke; Yamaguchi, Rie; Takagi, Takeshi; Nishimura, Gen; Sameshima, Kiyoko; Saito, Kayoko; Minegishi, Takashi
• Is Part Of: Congenital anomalies. Volume 58:Number 6(2018)
• Page Start: 194
• Page End: 197
• Publication Date: 2018-04-02
• Subjects: campomelic dysplasia -- familial -- genetic counseling -- mosaicism -- SOX9 transcription factor; Abnormalities, Human -- Periodicals; 616.043
• DOI: 10.1111/cga.12279
• Languages: English
• ISSNs: 0914-3505

Abstract

ABSTRACT: 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.