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A Novel TBX1 Variant Causing Hypoparathyroidism and Deafness.

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A novel TBX1 gene variant causes DiGeorge syndrome-like features, including hypoparathyroidism and deafness, but not heart defects. This highlights the TBX1 gene's role in development and its varied effects.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Human Physiology

Background:

  • The TBX1 gene encodes a T-box 1 transcription factor crucial for development.
  • Haploinsufficiency of TBX1 is associated with DiGeorge syndrome features.
  • TBX1 is located in the DiGeorge syndrome critical region on chromosome 22q11.2.

Purpose of the Study:

  • To investigate the genetic basis of a DiGeorge-like phenotype in a family.
  • To identify novel variants in the TBX1 gene and their functional consequences.

Main Methods:

  • Whole genome sequencing was performed on affected family members.
  • Computational structural analysis of identified TBX1 variants.
  • Gene expression studies were conducted to assess functional impact.

Main Results:

  • A novel heterozygous variant (c.1158_1159delinsT p.(Gly387Alafs*73)) in TBX1 exon 9, isoform C, was identified.
  • This variant leads to the loss of nuclear localization sequence (NLS) and transactivation domain (TAD).
  • The variant resulted in a DiGeorge-like phenotype with hypoparathyroidism, facial asymmetry, and deafness, but no cardiac anomalies.

Conclusions:

  • A pathogenic TBX1 exon 9 variant causing loss of NLS and TAD leads to variable hypoparathyroidism, facial features, and deafness.
  • TBX1 variants present a wide phenotypic spectrum.
  • Pathogenic variants in TBX1 exon 9, isoform C, consistently show an absence of cardiac involvement.