Article Dans Une Revue Clinical Genetics Année : 2022

HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H‐TM protein

Minna Kraatari‐tiri
Leila Soikkonen
Matti Myllykoski
Yalda Jamshidi
Ehsan G Karimiani
  • Fonction : Auteur
Jonna Komulainen-Ebrahim
  • Fonction : Auteur
Hanna Kallankari
  • Fonction : Auteur
Zahra Alsahlawi
Antonio Romito
  • Fonction : Auteur
Javier Martini
  • Fonction : Auteur
Mehran B Toosi
  • Fonction : Auteur
Christopher J Carroll
  • Fonction : Auteur
Kornelia Tripolszki
  • Fonction : Auteur
Peter Bauer
Johanna Uusimaa
  • Fonction : Auteur
Aida M Bertoli‐avella
Peppi Koivunen
Elisa Rahikkala

Résumé

Abstract HIDEA syndrome is caused by biallelic pathogenic variants in P4HTM . The phenotype is characterized by muscular and central hypotonia, hypoventilation including obstructive and central sleep apneas, intellectual disability, dysautonomia, epilepsy, eye abnormalities, and an increased tendency to develop respiratory distress during pneumonia. Here, we report six new patients with HIDEA syndrome caused by five different biallelic P4HTM variants, including three novel variants. We describe two Finnish enriched pathogenic P4HTM variants and demonstrate that these variants are embedded within founder haplotypes. We review the clinical data from all previously published patients with HIDEA and characterize all reported P4HTM pathogenic variants associated with HIDEA in silico. All known pathogenic variants in P4HTM result in either premature stop codons, an intragenic deletion, or amino acid changes that impact the active site or the overall stability of P4H‐TM protein. In all cases, normal P4H‐TM enzyme function is expected to be lost or severely decreased. This report expands knowledge of the genotypic and phenotypic spectrum of the disease.
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hal-04610659 , version 1 (13-06-2024)

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Minna Kraatari‐tiri, Leila Soikkonen, Matti Myllykoski, Yalda Jamshidi, Ehsan G Karimiani, et al.. HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H‐TM protein. Clinical Genetics, 2022, 102 (5), pp.444-450. ⟨10.1111/cge.14203⟩. ⟨hal-04610659⟩
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