Details

Autor(en) / Beteiligte

• Hoefele, Julia
• Wilhelm, Christian
• Schiesser, Monika
• Mack, Reinhold
• Heinrich, Uwe
• Weber, Lutz T.
• Biskup, Saskia
• Daumer-Haas, Cornelia
• Klein, Hanns-Georg
• Rost, Imma

Titel

Expanding the mutation spectrum for Fraser syndrome: Identification of a novel heterozygous deletion in FRAS1

Ist Teil von

• Gene, 2013-05, Vol.520 (2), p.194-197

Ort / Verlag

Netherlands: Elsevier B.V

Erscheinungsjahr

2013

Link zum Volltext

Quelle

Elsevier ScienceDirect Journals Complete

Beschreibungen/Notizen

• Fraser syndrome (FS) is a rare autosomal recessive inherited disorder characterized by cryptophthalmos, laryngeal defects and oral clefting, mental retardation, syndactyly, and urogenital defects. To date, 250 patients have been described in the literature. Mutations in the FRAS1 gene on chromosome 4 have been identified in patients with Fraser syndrome. So far, 26 mutations have been identified, most of them are truncating mutations. The mutational spectrum includes nucleotide substitutions, splicing defects, a large insertion, and small deletions/insertions. Moreover, single heterozygous missense mutations in FRAS1 seem to be responsible for non-syndromic unilateral renal agenesis. Here we report the first case of a family with two patients affected by Fraser syndrome due to a deletion of 64kb (deletion 4q21.21) and an additional novel frameshift mutation in exon 66 of the FRAS1 gene. To date, large deletions of the FRAS1 gene have not yet been described. Large deletions seem to be a rare cause for Fraser syndrome, but should be considered in patients with a single heterozygous mutation. •A large deletion of FRAS1 should be considered in patients with one FRAS1 mutation.•Array-CGH represents an important and valuable addition in the diagnostics of FS.•Patients with deletions have a similar phenotype as with known types of mutations.