Affiliation: Albert Einstein Medical Center
- Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutationsNelson Lopez Jimenez
Department of Pediatrics, Division of Genetics, University of California, San Francisco, 533 Parnassus St, Room U585P, San Francisco, CA 94143 0748 USA
BMC Med Genet 12:172. 2011..We used next-generation sequencing to screen 15 A/M patients for mutations in 9 pathogenic genes to evaluate this technology for screening in A/M...
- Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromesTanya M Bardakjian
Clinical Genetics, Department of Pediatrics, Albert Einstein Medical Center, Philadelphia, PA, USA
BMC Med Genet 10:137. 2009..Townes-Brocks syndrome manifests thumb anomalies, imperforate anus, and ear anomalies. We present a 13-year-old boy with a syndromic microphthalmia phenotype and a clinical diagnosis of Lenz microphthalmia syndrome...
- Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomaliesAnneke I den Hollander
Division of Craniofacial and Molecular Genetics, Tufts University, 136 Harrison Ave, Boston MA 02111, USA
BMC Genet 11:102. 2010..The goal of this study is to characterize the outm233 mutant, and to determine whether mutations in the out gene cause microphthalmia in humans...
- Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughtersAdele Schneider
Division of Genetics, Albert Einstein Medical Center, Philadelphia, Pennsylvania 19141, USA
Am J Med Genet A 146:2794-8. 2008..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...
- Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase A enzyme assay is essential for accurate testingAdele Schneider
Genetics Division, Albert Einstein Medical Center, Philadelphia, Pennsylvania 19141, USA
Am J Med Genet A 149:2444-7. 2009..Due to changing demographics of the Ashkenazi Jewish population, molecular testing alone in the setting of broad-based population screening programs is not sufficient, and biochemical analysis should be the assay of choice...
- Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmiaJie Zhou
Division of Ophthalmology, Children s Hospital of Philadelphia, Philadelphia, PA, USA
Mol Vis 14:583-92. 2008..In this study, we evaluated 34 anophthalmic/microphthalmic patient DNA samples (two sets of siblings included) for mutations and sequence variants in SOX2 and CHX10...
- The genetics of anophthalmia and microphthalmiaTanya M Bardakjian
Albert Einstein Medical Center, Division of Genetics, Philadelphia, Pennsylvania 19141, USA
Curr Opin Ophthalmol 22:309-13. 2011..To summarize recent breakthroughs regarding the genes known to play a role in normal ocular development in humans and to elucidate the role mutations in these genes play in anophthalmia and microphthalmia...
- VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humansAnne M Slavotinek
Department of Pediatrics, Division of Genetics, University of California, San Francisco, California 94143 0748, USA
Hum Mutat 33:364-8. 2012..We did not identify any mutations in VAX2. This is the first description of a phenotype associated with a VAX1 mutation in humans and establishes VAX1 as a new causative gene for A/M...
- Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmiaAdele Schneider
Albert Einstein Medical Center, Department of Pediatrics Division of Genetics, Milwaukee, Wisconsin, USA
Am J Med Genet A 149:2706-15. 2009..In addition, we report a new familial case of affected siblings with maternal mosaicism for the identified SOX2 mutation, which further underscores the importance of parental testing to provide accurate genetic counseling to families...
- ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasmMani Yahyavi
Division of Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, CA 94143 0748, USA
Hum Mol Genet 22:3250-8. 2013..We conclude that ALDH1A3 loss of function causes anophthalmia and aberrant eye development in humans and in animal model systems. ..
- Association of anophthalmia and esophageal atresia: four new cases identified by the anophthalmia/microphthalmia clinical registryTanya M Bardakjian
Division of Genetics, Department of Pediatrics, Albert Einstein Medical Center, Philadelphia, Pennsylvania, USA
Am J Med Genet A 132:54-6. 2005..Several transcription factors have been shown to be important in regulating eye development. Mutations in these developmental genes may be the cause of this clinical association...