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TBX3- Related Disorder.

Ziv Halperin1, Karin Weiss1,2

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Summary
This summary is machine-generated.

Pathogenic variants in TBX3 gene cause Ulnar-Mammary syndrome (UMS), affecting limb and gland development. Some patients show pituitary issues like hypoplasia, with variable symptoms requiring tailored management.

Keywords:
TBX3hypogonadismobesityulnar mammary syndromevariable expressivity

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Area of Science:

  • Genetics
  • Endocrinology
  • Developmental Biology

Background:

  • Ulnar-Mammary syndrome (UMS) is a genetic disorder.
  • It is caused by heterozygous pathogenic variants in the TBX3 gene.
  • Classic symptoms include upper limb defects, hypoplasia of apocrine/mammary glands, hypogonadism, and midline defects.

Purpose of the Study:

  • To describe the clinical features of TBX3-related disorders.
  • To elucidate the molecular basis of TBX3-related disorders.
  • To propose management and treatment recommendations for patients.

Main Methods:

  • Literature review of clinical presentations.
  • Analysis of molecular genetic data.
  • Synthesis of current treatment and management strategies.

Main Results:

  • UMS exhibits a highly variable phenotype, with some cases presenting atypically or without limb/mammary involvement.
  • A significant rate of pituitary hypoplasia with decreased gonadotropins and growth hormone has been observed, sometimes as an isolated finding.
  • TBX3 variants are the molecular basis for this spectrum of abnormalities.

Conclusions:

  • TBX3-related disorders encompass a wide range of clinical manifestations, including endocrine abnormalities.
  • Early identification and comprehensive management are crucial for patients with UMS.
  • Further research into TBX3 function and associated pathways is warranted.