title: Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion.
abstract: We report a 22-year-old female with a variant of the Axenfeld-Rieger Syndrome (ARS) and discuss its relation with the subtelomeric 6p deletion. An ARS variant has been described in two familial cases of Axenfeld-Rieger Anomaly (ARA) featuring specific extra ocular manifestations-hypertelorism, midface hypoplasia, mild sensorial deafness, hydrocephaly, psychomotor delay and flattened femoral epiphyses. We proposed that this set of characteristics represents a separate syndrome within the ARS. On the other hand, there have been reported four cases with cryptic de novo pure 6pter microdeletions detected by specific subtelomeric probes in patients with ARS characteristics. We describe a 6pter deletion detected by SNP genotyping and confirmed by FISH and MLPA involving the FOXC1 gene in a patient with ocular and systemic findings that fit perfectly with the variant mentioned above. We conclude that the ARS variant belongs to the ARS phenotypic spectrum, which includes flattened femoral epiphyses as a feature.
authors.affiliation: Genetic Service, Fundacion Jimenez Diaz, Madrid, Spain.
authors.forename: Victor
authors.initials: V
authors.lastname: Martinez-Glez
authors.forename: Isabel
authors.initials: I
authors.lastname: Lorda-Sanchez
authors.forename: Jose Manuel
authors.initials: JM
authors.lastname: Ramirez
authors.forename: Pedro
authors.initials: P
authors.lastname: Ruiz-Barnes
authors.forename: Marta
authors.initials: M
authors.lastname: Rodriguez de Alba
authors.forename: Dan
authors.initials: D
authors.lastname: Diego-Alvarez
authors.forename: Carmen
authors.initials: C
authors.lastname: Ramos
authors.forename: Charles C
authors.initials: CC
authors.lastname: Searby
authors.forename: Darryl Y
authors.initials: DY
authors.lastname: Nishimura
authors.forename: Carmen
authors.initials: C
authors.lastname: Ayuso
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000328:Adult; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6; D015342:DNA Probes; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics; D014644:Genetic Variation; D005838:Genotype; D006615:Hip / Q000000981:diagnostic imaging; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D020641:Polymorphism, Single Nucleotide; D011859:Radiography; D013577:Syndrome
chemical_list: D015342:DNA Probes; C112743:FOXC1 protein, human; D051858:Forkhead Transcription Factors