Familial campomelic dysplasia due to maternal germinal mosaicism

Autor:	Daisuke, Higeta, Rie, Yamaguchi, Takeshi, Takagi, Gen, Nishimura, Kiyoko, Sameshima, Kayoko, Saito, Takashi, Minegishi
Rok vydání:	2017
Předmět:	Male Genotype Mosaicism DNA Mutational Analysis Karyotype Campomelic Dysplasia SOX9 Transcription Factor Pedigree Radiography Phenotype Amino Acid Substitution Mutation Humans Female Maternal Inheritance Alleles Germ-Line Mutation
Zdroj:	Congenital anomalies. 58(6)
ISSN:	1741-4520
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
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::945b3b0c73cc6472cc06372b363d69f0 https://pubmed.ncbi.nlm.nih.gov/29542186 Zobrazit plný text záznamu Plný text