A novel KIF7 mutation in two affected siblings with acrocallosal syndrome.
Clin Dysmorphol
; 24(2): 61-4, 2015 Apr.
Article
em En
| MEDLINE
| ID: mdl-25714560
ABSTRACT
Acrocallosal syndrome (ACLS) is a rare genetic disorder typically characterized by craniofacial dysmorphism, agenesis, or hypoplasia of the corpus callosum, and duplication of the phalanges of halluces and/or the thumbs. ACLS is a recessive ciliopathy caused by mutations in KIF7. We identified a Turkish family who had a novel homozygous sequence change, c.2593-2A>C, located at the acceptor splice site of intron 12 of KIF7 (IVS12-2A>C). The present report will contribute towards further understanding of the genotype-phenotype correlation in ACLS caused by KIF7 mutations.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Limite:
Child, preschool
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Female
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Humans
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Infant
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Male
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article