SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome. - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue Journal of Medical Genetics Année : 2016

SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome.

Anna Schossig
  • Fonction : Auteur
Adrian Lussi
  • Fonction : Auteur
Nicole I Wolf
  • Fonction : Auteur
Salmo Raskin
  • Fonction : Auteur
Monika Cohen
  • Fonction : Auteur
Fabienne Giuliano
  • Fonction : Auteur
Julie Jurgens
  • Fonction : Auteur
Birgit Krabichler
  • Fonction : Auteur
David A Koolen
  • Fonction : Auteur
Nara Lygia de Macena Sobreira
  • Fonction : Auteur
Elisabeth Maurer
  • Fonction : Auteur
Michèle Muller-Bolla
Johann Penzien
  • Fonction : Auteur
Johannes Zschocke
  • Fonction : Auteur
Ines Kapferer-Seebacher
  • Fonction : Auteur

Résumé

BACKGROUND: Kohlschütter-Tönz syndrome (KTZS) is a rare autosomal-recessive disease characterised by epileptic encephalopathy, intellectual disability and amelogenesis imperfecta (AI). It is frequently caused by biallelic mutations in ROGDI. Here, we report on individuals with ROGDI-negative KTZS carrying biallelic SLC13A5 mutations. METHODS: In the present cohort study, nine individuals from four families with the clinical diagnosis of KTZS and absence of ROGDI mutations as well as one patient with unexplained epileptic encephalopathy were investigated by clinical and dental evaluation, parametric linkage analysis (one family), and exome and/or Sanger sequencing. Dental histological investigations were performed on teeth from individuals with SLC13A5-associated and ROGDI-associated KTZS. RESULTS: Biallelic mutations in SLC13A5 were identified in 10 affected individuals. Epileptic encephalopathy usually presents in the neonatal and (less frequently) early infantile period. Yellowish to orange discolouration of both deciduous and permanent teeth, as well as wide interdental spaces and abnormal crown forms are major clinical signs of individuals with biallelic SLC13A5 mutations. Histological dental investigations confirmed the clinical diagnosis of hypoplastic AI. In comparison, the histological evaluation of a molar assessed from an individual with ROGDI-associated KTZS revealed hypocalcified AI. CONCLUSIONS: We conclude that SLC13A5 is the second major gene associated with the clinical diagnosis of KTZS, characterised by neonatal epileptic encephalopathy and hypoplastic AI. Careful clinical and dental delineation provides clues whether ROGDI or SLC13A5 is the causative gene. Hypersensitivity of teeth as well as high caries risk requires individual dental prophylaxis and attentive dental management.

Domaines

Génétique
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Dates et versions

hal-03680452 , version 1 (27-05-2022)

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Anna Schossig, Agnès Bloch-Zupan, Adrian Lussi, Nicole I Wolf, Salmo Raskin, et al.. SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome.. Journal of Medical Genetics, 2016, 54 (1), pp.54-62. ⟨10.1136/jmedgenet-2016-103988⟩. ⟨hal-03680452⟩
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