Published online Mar 16, 2024. doi: 10.12998/wjcc.v12.i8.1454
Peer-review started: November 13, 2023
First decision: December 26, 2023
Revised: December 29, 2023
Accepted: January 30, 2024
Article in press: January 30, 2024
Published online: March 16, 2024
Processing time: 119 Days and 20.9 Hours
A rare autosomal recessive genetic disorder, 3M syndrome, is characterized by severe intrauterine and postnatal growth retardation. Children with 3M syndrome typically exhibit short stature, facial deformities, long tubular bones, and high vertebral bodies but generally lack mental abnormalities or other organ damage. Pathogenic genes associated with 3M syndrome include CUL7, OBSL1 and CCDC8. The clinical and molecular characteristics of patient with 3M syn
In this case, the patient displayed square shoulders, scoliosis, long slender tubular bones, and normal neurological development. Notably, the patient did not exhibit the typical dysmorphic facial features, relative macrocephaly, or growth retardation commonly observed in individuals with 3M syndrome. Whole exon sequencing revealed a novel heterozygous c.56681+1G>C (Splice-3) variant and a previously reported nonsense heterozygous c.3341G>A (p.Trp1114Ter) variant of OBSL1. Therefore, it is important to note that the clinical features of 3M syndrome may not always be observable, and genetic confirmation is often required. Additionally, the identification of the c.5683+1G>C variant in OBSL1 is notewor
Our study identified a new variant (c.5683+1G>C) of OBSL1 that contributes to expanding the molecular profile of 3M syndrome.
Core Tip: 3M syndrome, a rare autosomal recessive genetic disease that is characterized by severe intrauterine and postnatal growth retardation. Children with 3M syndrome typically exhibit short stature, facial deformities, long tubular bones, and high vertebral bodies, while lacking mental abnormalities or other organ damage. The pathogenic genes associated with 3M syndrome include CUL7, OBSL1 and CCDC8. When encountering patients with short stature and dysmorphic features alongside normal intelligence, it is essential to consider 3M syndrome as a differential diagnosis. Our study has identified a new variant in the OBSL1 gene, contributing to the expanding molecular profile of 3M syndrome.