Utilization of Gene Mapping and Candidate Gene Mutation Screening for Diagnosing Clinically Equivocal Conditions：A Norrie Disease Case Study

Vasiliki Chini， Danai Stambouli， Florina Mihaela Nedelea， George Alexandru Filipescu， Diana Mina，Marios Kambouris，5， Hatem El-Shanti，6，*

1 Qatar Biomedical Research Institude（QBRI）-Medical Genetics Center， Doha， Qatar

2 Cytogenomic Medical Laboratory， Bucharest， Romania

3 Elias University Emergency Hospital， Bucharest， Romania

4 University of Iowa，Internal Medicine，Iowa City，IA，USA

5 Yale University School of Medicine， Genetics， New Haven CT， USA

6 University of Iowa， Pediatrics， Iowa City， IA， USA

Introduction

Materials and methods

Figure 1 Pedigree of the family harboring a Norrie disease mutation．Genotypes of eight microsatellite DNA markers within the critical interval （Xp11．23-11．4） are shown．The haplotype shared by the affected individuals and the carrier mothers is enclosed within the rectangle．

Results

Discussion

Acknowledgments