Case report of congenital neutropenia type 4 with glucose‐6‐phosphatase catalytic subunit 3 (G6PC3) deficiency

Key Clinical Message Congenital neutropenia syndromes encompass a group of genetic disorders characterized by persistent neutropenia and recurrent infections inherited in an autosomal recessive, dominant, or X‐linked manner. These syndromes arise from mutations in various genes, and one of the significant genes involved is glucose‐6‐phosphatase catalytic subunit 3 (G6PC3), giving rise to a condition known as Dursun syndrome. As per existing knowledge, a total of 92 cases of Dursun syndrome have been reported globally, including eight cases from Saudi Arabia. Our study identified two additional cases exhibiting neutropenia since the early postnatal period and recurrent admissions due to infections. Additionally, these patients presented with oral ulcers, chronic diarrhea, and anomalies affecting the cardiac and genitourinary systems. The rising incidence of congenital neutropenia on a global scale necessitates heightened vigilance among clinicians to ensure thorough follow‐up of patients with neutropenia. This proactive approach can lead to early detection and appropriate management of associated complications, ultimately improving patient outcomes

Dilated cardiomyopathy associated with NRAP gene: a case series

Background: The genetic basis of dilated cardiomyopathy (DCM) is highly diverse, with over 100 known genes and several possibilities described. Nebulin-related-anchoring protein (NRAP) is an action-binding cytoskeletal protein that has a role in the myofibrillar assembly in the embryonic heart. It is primarily generated in striated and cardiac muscles. Case Presentation: We described three cases of DCM that were related to NRAP gene mutations [NM_001261463.1: c.3568G > T; p. (Glu1190*)]. Conclusion: Our data imply that biallelic nonsense mutations in the NRAP might be a genetic risk factor with limited penetrance and induce DCM at various ages. [JBCGenetics 2023; 6(1.000): 70-74