VACTERL with hydrocephalus in twins due to Fanconi anemia (FA): mutation in the FAC gene

P M Cox; R A Gibson; N Morgan; L A Brueton

VACTERL with hydrocephalus in twins due to Fanconi anemia (FA): mutation in the FAC gene

Am J Med Genet. 1997 Jan 10;68(1):86-90.

Authors

P M Cox¹, R A Gibson, N Morgan, L A Brueton

Affiliation

¹ Department of Histopathology, Royal Postgraduate Medical School, Hammersmith Hospital, London, United Kingdom.

PMID: 8986283

Abstract

We present a dizygotic twin pair each with ventriculomegaly, a radial ray defect and multiple malformations in keeping with the VACTERL association. Molecular studies demonstrated that both are homozygous for IVS4 + 4 A-->T, a mutation in the Fanconi anemia complementation group C gene. This is the first molecular proof that VACTERL with hydrocephalus may be the result of severe Fanconi anemia.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / pathology*
DNA Mutational Analysis
Fanconi Anemia / genetics
Fanconi Anemia / pathology*
Fanconi Anemia Complementation Group C Protein
Female
Fetus / abnormalities*
Humans
Hydrocephalus / pathology*
Pedigree
Pregnancy
Proteins / genetics
Twins, Dizygotic

Substances

FANCC protein, human
Fanconi Anemia Complementation Group C Protein
Proteins