Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1.
We report on a consanguineous family with three pregnancies affected with Fraser syndrome. We note severe brachydactyly is a manifestation of Fraser syndrome and found a novel homozygous splice site variation c.3293-2A>T in FRAS1. We would like to highlight variable manifestations of Fraser syndrome and the presence of oligohydramnios in the antenatal period often makes prenatal diagnosis clinically challenging.
Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
Shalini S
SS
Nayak
Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
Smrithi
S
Salian
Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
Anju
A
Shukla
Department of Pathology, Kasturba Medical College, Manipal University, Manipal, India.
Mary
M
Mathew
Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
Katta M
http://orcid.org/0000-0002-0139-8239
KM
Girisha
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000483:Alleles; D001344:Autopsy; D002874:Chromosome Mapping; D003241:Consanguinity; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005333:Fetus / Q000002:abnormalities*; D058497:Fraser Syndrome / Q000175:diagnosis* / Q000235:genetics*; D005838:Genotype; D006801:Humans; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D016216:Ultrasonography, Prenatal
D016326:Extracellular Matrix Proteins; C475145:FRAS1 protein, human
Brachydactyly; Fraser syndrome; Syndactyly