PERCHING syndrome caused by variant gene KLHL7 in the first Iranian patient: a case report study

Mousa Ghelichi-Ghojogh; Saeed Golfiroozi; Sahar Delavari; Seyed Ahmad Hosseini

doi:10.1097/MS9.0000000000001429

PERCHING syndrome caused by variant gene KLHL7 in the first Iranian patient: a case report study

Ann Med Surg (Lond). 2023 Dec 2;86(2):1048-1051. doi: 10.1097/MS9.0000000000001429. eCollection 2024 Feb.

Authors

Mousa Ghelichi-Ghojogh¹, Saeed Golfiroozi², Sahar Delavari³, Seyed Ahmad Hosseini¹

Affiliations

¹ Neonatal and Children's Health Research Center Golestan University of Medical Sciences, Gorgan, Iran.
² Department of Emergency Medicine, School of Medicine, Golestan University of Medical Sciences, Gorgan, Iran.
³ Institute for the Developing Mind, Children's Hospital Los Angeles, Keck School of Medicine at the University of Southern California, Los Angeles, CA.

Abstract

Introduction and importance: PERCHING syndrome is a condition that affects many parts of the body and is caused by genes passed down from both parents. People with this syndrome have delays in their development, unusual facial features, trouble eating and breathing, slow overall growth, weak muscles, and stiff joints.

Case presentation: The child at the age of 6 months suffered from developmental delay, delayed walking, speech delay, and hypotonia and was referred to the Neurologist. Also, he has an abnormal phenotype. Whole-exome sequencing (WES) revealed a missense variant in the KLHL7 gene at a highly conserved genomic Chr7: 23124718T>G; NM_018846:exon3:c.110T>G:p.Val37Gly.

Clinical discussion: One way to explain the difference in physical characteristics caused by recessive KLHL7 mutations might be related to the person's genetic makeup. However, the genes someone has do not always accurately determine their physical traits.

Conclusion: This report will help us learn more about the different traits and characteristics of Perching syndrome. The authors need to do more research on how proteins work and study more about patients with different characteristics to fully understand this.

Keywords: Case report; KLHL7; PERCHING syndrome.

Publication types

Case Reports