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Review
. 2018 Nov;58(6):194-197.
doi: 10.1111/cga.12279. Epub 2018 Apr 2.

Familial campomelic dysplasia due to maternal germinal mosaicism

Daisuke Higeta  1   2 , Rie Yamaguchi  3 , Takeshi Takagi  4 , Gen Nishimura  5 , Kiyoko Sameshima  6 , Kayoko Saito  7 , Takashi Minegishi  1
Affiliations
Review

Familial campomelic dysplasia due to maternal germinal mosaicism

Daisuke Higeta et al. Congenit Anom (Kyoto). 2018 Nov.

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.

Keywords: SOX9 transcription factor; campomelic dysplasia; familial; genetic counseling; mosaicism.

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