Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.
Clin Genet
; 90(3): 270-5, 2016 09.
Article
em En
| MEDLINE
| ID: mdl-26706854
ABSTRACT
Acromelic frontonasal dysostosis (AFND) is a distinctive and rare frontonasal malformation that presents in combination with brain and limb abnormalities. A single recurrent heterozygous missense substitution in ZSWIM6, encoding a protein of unknown function, was previously shown to underlie this disorder in four unrelated cases. Here we describe four additional individuals from three families, comprising two sporadic subjects (one of whom had no limb malformation) and a mildly affected female with a severely affected son. In the latter family we demonstrate parental mosaicism through deep sequencing of DNA isolated from a variety of tissues, which each contain different levels of mutation. This has important implications for genetic counselling.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Deformidades Congênitas dos Membros
/
Proteínas de Ligação a DNA
/
Disostose Mandibulofacial
Limite:
Female
/
Humans
/
Male
/
Pregnancy
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article