4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay

Yukino Kawanami; Tomoko Horinouchi; Naoya Morisada; Takeshi Kato; Kandai Nozu

doi:10.1155/2023/4592114

4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay

Case Rep Genet. 2023 Feb 9:2023:4592114. doi: 10.1155/2023/4592114. eCollection 2023.

Authors

Yukino Kawanami¹, Tomoko Horinouchi¹, Naoya Morisada², Takeshi Kato³, Kandai Nozu¹

Affiliations

¹ Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
² Department of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital, Kobe, Japan.
³ Western Pediatric and Rehabilitation Center for the Disabled, Kobe, Japan.

Abstract

We encountered a case with congenital iris coloboma, omphalocele, and developmental delay with a 2.5 Mb deletion on chromosome 4q25 encompassing PITX2, leading to Axenfeld-Rieger syndrome (ARS), NEUROG2, and ANK2. ARS is characterized by the aplasia of the anterior eye, odontogenesis, and abdominal wall aplasia. In our case, iris coloboma and omphalocele were thought to be caused by PITX2 haploinsufficiency. However, these symptoms are nonspecific, and clinical symptoms alone can make it difficult to make a correct diagnosis. In addition, the genes responsible for developmental delay, among others, are not well understood. Developmental delay, in this case, might be caused due to NEUROG2 haploinsufficiency. In spite of the partial deletion of ANK2, the causative gene of long QT syndrome type 4, the electrocardiogram was normal. Genetic testing can lead to a correct diagnosis, and it may be effective in detecting complications.

Publication types

Case Reports