Case Report: A new patient expanding the clinical spectrum of DOHH-associated syndrome with increased nuchal translucency, cardiomyopathy, hypoparathyroidism and mild intellectual disability - Takeaways - MDSpire

Case Report: A new patient expanding the clinical spectrum of DOHH-associated syndrome with increased nuchal translucency, cardiomyopathy, hypoparathyroidism and mild intellectual disability

  • By

  • Elise Daire

  • Sabine Dirani

  • Karine Braun

  • Segolene Delmas Lanta

  • Hélène Cavé

  • Adeline Alice Bonnard

  • Benedicte Demeer

  • June 4, 2026

  • 0 min

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  • 1

    DOHH-related disorders are caused by biallelic variants in the DOHH gene, affecting polyamine homeostasis and metabolism.

  • 2

    A 10-year-old boy with DOHH-related syndrome exhibited increased nuchal translucency, cardiomyopathy, hypoparathyroidism, and mild cognitive impairment.

  • 3

    The patient's clinical presentation included prenatal findings of increased nuchal translucency and postnatal dilated cardiomyopathy.

  • 4

    Genetic testing identified a homozygous pathogenic variant in DOHH, expanding the phenotypic spectrum of DOHH-related disorders.

  • 5

    This case highlights the importance of exome sequencing and long-term follow-up for accurate phenotypic characterization in rare diseases.

Original Source(s)

Case Report: A new patient expanding the clinical spectrum of DOHH-associated syndrome with increased nuchal translucency, cardiomyopathy, hypoparathyroidism and mild intellectual disability

  • by Elise Daire, Sabine Dirani, Karine Braun, Segolene Delmas Lanta, Hélène Cavé, Adeline Alice Bonnard, Benedicte Demeer

  • June 4, 2026

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