A Rare Contiguous Gene Deletion Leading to Trichothiodystrophy Type 4 and Glutaric Aciduria Type 3

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Demir E., Doğulu N., Tuna Kırsaçlıoğlu C., Topcu V., Eminoğlu F. T., Kuloğlu Z., ...More

MOLECULAR SYNDROMOLOGY, vol.14, no.2, pp.136-142, 2023 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 14 Issue: 2
  • Publication Date: 2023
  • Doi Number: 10.1159/000526393
  • Journal Name: MOLECULAR SYNDROMOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE
  • Page Numbers: pp.136-142
  • Keywords: Trichothiodystrophy type 4, Glutaric aciduria type 3, Microarray analysis, Contiguous gene deletion, Hypertransaminasemia, C7ORF11 TTDN1 GENE, MUTATIONS, IDENTIFICATION
  • Ankara University Affiliated: Yes

Abstract

Introduction: Trichothiodystrophy type 4 and glutaric aciduria type 3 are rare autosomal recessive disorders caused by biallelic variants in the MPLKIP and SUGCT genes on chromosome 7p14, respectively. Trichothiodystrophy type 4 is characterized by neurologic and cutaneous abnormalities. Glutaric aciduria type 3 is a rare metabolic disorder with inconsistent phenotype and elevated urinary excretion of glutaric acid. Case Presentation: Here, we report on an infant presenting with hypotonia, failure to thrive, microcephaly, dysmorphic features, brittle hair, hypertransaminasemia, and recurrent lower respiratory tract infections. Microarray analysis revealed a homozygous microdeletion involving the MPLKIP and SUGCT genes, which are located close to each other. Conclusion: Copy number variations should be considered in patients with coexisting clinical expression of different genetic alterations. To the best of our knowledge, our patient is the second case with co-occurrence of trichothiodystrophy type 4 and glutaric aciduria type 3, resulting from a contiguous gene deletion.