title: Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.
abstract: The SOX2 anophthalmia syndrome is emerging as a clinically recognizable disorder that has been identified in 10-15% of individuals with bilateral anophthalmia. Extra-ocular anomalies are common. The majority of SOX2 mutations identified appear to arise de novo in probands ascertained through the presence of anophthalmia or microphthalmia. In this report, we describe two sisters with bilateral anophthalmia/microphthalmia, brain anomalies and a novel heterozygous SOX2 gene single-base pair nucleotide deletion, c.551delC, which predicts p.Pro184ArgfsX19. The hypothetical protein product is predicted to lead to haploinsufficient SOX2 function. Mosaicism for this mutation in the SOX2 gene was also identified in their clinically unaffected mother in peripheral blood DNA. Thus it cannot be assumed that all SOX2 mutations in individuals with anophthalmia/microphthalmia are de novo. Testing of parents is indicated when a SOX2 mutation is identified in a proband.
authors.affiliation: Division of Genetics, Albert Einstein Medical Center, Philadelphia, Pennsylvania 19141, USA. schneida@einstein.edu
authors.forename: Adele
authors.initials: A
authors.lastname: Schneider
authors.forename: Tanya M
authors.initials: TM
authors.lastname: Bardakjian
authors.forename: Jie
authors.initials: J
authors.lastname: Zhou
authors.forename: Nkecha
authors.initials: N
authors.lastname: Hughes
authors.forename: Rosanne
authors.initials: R
authors.lastname: Keep
authors.forename: Darnelle
authors.initials: D
authors.lastname: Dorsainville
authors.forename: Femida
authors.initials: F
authors.lastname: Kherani
authors.forename: James
authors.initials: J
authors.lastname: Katowitz
authors.forename: Lisa A
authors.initials: LA
authors.lastname: Schimmenti
authors.forename: Marybeth
authors.initials: M
authors.lastname: Hummel
authors.forename: David R
authors.initials: DR
authors.lastname: Fitzpatrick
authors.forename: Terri L
authors.initials: TL
authors.lastname: Young
mesh_terms: D000328:Adult; D000853:Anophthalmos / Q000000981:diagnostic imaging / Q000235:genetics*; D001483:Base Sequence; D001921:Brain / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D017931:DNA Primers / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D009030:Mosaicism; D010641:Phenotype; D011247:Pregnancy; D055748:SOXB1 Transcription Factors / Q000235:genetics*; D017384:Sequence Deletion; D013577:Syndrome; D016216:Ultrasonography, Prenatal
chemical_list: D017931:DNA Primers; C527782:SOX2 protein, human; D055748:SOXB1 Transcription Factors