J Pediatr Genet 2020; 09(02): 142-144
DOI: 10.1055/s-0039-1700535
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Novel Pathogenic Variant in the Cys110 Residue: A Genotype–Phenotype Report of a Patient with Norrie Disease

Jaspreet Garcha
1   The Atwal Clinic: Genomic & Personalized Medicine, Jacksonville, Florida, United States
,
Angita Jain
1   The Atwal Clinic: Genomic & Personalized Medicine, Jacksonville, Florida, United States
,
Herjot Atwal
1   The Atwal Clinic: Genomic & Personalized Medicine, Jacksonville, Florida, United States
,
Pavalan Sevlam
1   The Atwal Clinic: Genomic & Personalized Medicine, Jacksonville, Florida, United States
,
Paldeep S. Atwal
1   The Atwal Clinic: Genomic & Personalized Medicine, Jacksonville, Florida, United States
› Author Affiliations
Further Information

Publication History

28 June 2019

19 September 2019

Publication Date:
21 October 2019 (online)

Abstract

Norrie disease is an X-linked genetic disorder caused by pathogenic mutations in the NDP. Here, we describe the clinical phenotype and genotype in a 19-week-old male infant with bilateral retinal detachment. Whole exome sequencing using available commercial methods on the proband revealed a hemizygous substitution in exon 3 of NDP, which suggests the etiology behind retinal detachment. This report not only adds to the expanding mutational spectrum of NDP-related retinopathies but also highlights the recurrence of pathogenic variants in the Cys110 residue, adding additional evidence to this residue as a potential mutational hot spot.

 
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