MED13 Gene Mutation Related to Autism Spectrum Disorder: A Case Report.

This case report highlights an association between the MED13 gene and autism spectrum disorder (ASD). ASD is a neurodevelopmental disorder characterized by impaired social interactions, communication difficulties, and repetitive behaviors. The MED13 gene encodes a subunit of the Mediator complex, which plays a key role in gene expression regulation and transcriptional processes. In this case report, we present a case of a child diagnosed with ASD who underwent whole exome sequencing (WES) and revealed an uncertain heterozygous variant in the MED13 gene. The patient exhibited typical features of ASD, including the following: social and communication deficits, restricted interests, repetitive behaviors, and characteristic dysmorphic facial features. The identification of this MED13 gene variant provides further evidence of its potential involvement in ASD pathogenesis. This case adds to the growing body of evidence linking MED13 gene mutations to ASD susceptibility. Understanding the genetic basis of ASD through case reports can aid in early diagnosis, personalized treatment strategies, and genetic counseling for affected individuals and their families. Further research is warranted to explain the precise mechanisms underlying MED13 gene involvement in ASD.

Pathogenic Presentation of a Variant of Uncertain Significance in a Puerto Rican Patient With Wiedemann-Steiner Syndrome.

Wiedemann-Steiner syndrome (WDSTS) is an autosomal dominant disorder that is caused by mutations in the KMT2A gene. This case reports a two-year-old male's diagnosis of WDSTS via a heterozygous variant of uncertain significance (VUS) (c.11735G>A(p.Cys3912Tyr). The patient's phenotypic presentation was remarkable for hypertrichosis, intellectual disability, intermittent aggressive behavior, developmental delay, failure to thrive, low weight, and the distinct facial features of long eyelashes, telecanthus, corrected strabismus, down-slanting palpebral fissures, and a wide nasal bridge with a broad tip. The importance of this case report stands on the principle of genetic evaluation in patients with ambiguous clinical presentations. In the future, molecular analysis of VUS with pathogenic clinical features can lead to targeted medical management and counseling.

Vitamin D levels and fracture risk among Hispanic children.

PURPOSE: There is a lack of knowledge about whether low vitamin D levels increase the risk of pediatric low-energy fractures among Hispanic population. The objective of this study is to determine whether there is a direct relationship between low vitamin D levels and the incidence of low-energy fractures in Hispanic children. METHOD: Cases included all consecutive patients evaluated with low-energy fractures in the pediatric orthopedic clinic. The control group consisted of all pediatric patients evaluated, without fractures, who had bone and joint pain complaints in the general pediatric clinic. The main focus was to compare cases and controls in relation to their vitamin D levels. Cases and controls were compared using t tests for means of quantitative variables and Chi-square tests. RESULTS: A total of 201 subjects, distributed as cases (n = 107) and controls (n = 94), were included in this study. One hundred twelve (55.7%) of the total study population were males. The mean age for the study population was 8.6 years old ranging from 1 year to 18 years, and standard deviation = 4.0 years. The median age for the study population was 9 years. The mean vitamin D level for the cases was 32.6 ng/dl (SD = 10.9); the mean vitamin D level for controls was 32.3 ng/dl (SD = 13.4). This difference was not statistically significant (t = 0.18, 95% CI - 3.2 to 3.9; p = 0.854). CONCLUSION: A direct relationship between low vitamin D levels and fracture risk in a Hispanic pediatric population was not established. LEVELS OF EVIDENCE: III.