Tricho-Hepato-Eenteric Syndrome: Same Genotype but Different Phenotypes in Two Pakistani Children

Area of Science:

• Genetics
• Pediatrics
• Hepatology

Background:

• Tricho-hepato-enteric syndrome (THES) is a rare genetic disorder characterized by infantile diarrhea, specific facial features, hair abnormalities (trichorrhexis nodosa), and liver disease.
• The syndrome is caused by mutations in the tetratricopeptide repeat domain 37 (TTC37) gene, making it a significant focus in genetic research.
• With only 44 cases reported globally, THES represents a diagnostic challenge and an area requiring further investigation.

Observation:

• Two pediatric patients with THES were diagnosed, presenting with identical genotypes but distinct phenotypic expressions.
• This observation underscores the complex genotype-phenotype correlation within THES.
• The cases provide a unique opportunity to study the variability of this rare genetic syndrome.

Findings:

• Genetic analysis confirmed TTC37 gene mutations as the cause in the presented cases.
• The review synthesizes current knowledge on THES, including its genetic basis and clinical manifestations.
• Novel aspects of the two cases, particularly the phenotypic divergence despite genotypic similarity, are detailed.

Implications:

• Understanding the phenotypic variability in THES is crucial for accurate diagnosis and personalized treatment strategies.
• Further research into TTC37 gene function and its role in THES pathogenesis is warranted.
• This study contributes to the limited literature on THES, offering insights into management and genetic counseling for affected families.