Annals of medicine and surgery (2012) · 2023
PERCHING syndrome caused by variant gene KLHL7 in the first Iranian patient: a case report study.
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Ghelichi-Ghojogh Mousa, Golfiroozi Saeed, Delavari Sahar, Hosseini Seyed Ahmad
Аннотация
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.
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.