BCM Team's publications
Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis - Archive ouverte HAL
Article Dans Une Revue American Journal of Medical Genetics Part A Année : 2019

Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis

Brice Poreau
  • Fonction : Auteur
Francis Ramond
  • Fonction : Auteur
Radu Harbuz
  • Fonction : Auteur
Véronique Satre
  • Fonction : Auteur
Claire Barro
  • Fonction : Auteur
Claire Vettier
  • Fonction : Auteur
Véronique Adouard
  • Fonction : Auteur
Julien Thevenon
  • Fonction : Auteur
Charles Coutton
  • Fonction : Auteur
Renaud Touraine
  • Fonction : Auteur
Klaus Dieterich

Résumé

The AMME syndrome defined as the combination of Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis (AMME) is known to be a contiguous gene syndrome associated with microdeletions in the region Xq22.3q23. Recently, using exome sequencing, missense pathogenic variants in AMMECR1 have been associated with intellectual disability, midface hypoplasia, and elliptocytosis. In these cases, AMMECR1 gene appears to be responsible for most of the clinical features of the AMME syndrome except for Alport syndrome. In this article, we present two unrelated male patients with short stature, mild intellectual disability or neurodevelopmental delay, sensorineural hearing loss, and elliptocytosis harboring small microdeletions identified by array‐CGH involving TMEM164 and AMMECR1 genes and SNORD96B small nucleolar RNA for one patient, inherited from their mothers. These original cases further confirm that most specific AMME features are ascribed to AMMECR1 haploinsufficiency. These cases reporting the smallest microdeletions encompassing AMMECR1 gene provide new evidence for involvement of AMMECR1 in the AMME phenotype and permit to discuss a phenotype related to AMMECR1 haploinsufficiency: developmental delay/intellectual deficiency, midface hypoplasia, midline defect, deafness, and short stature.

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Dates et versions

hal-05006576 , version 1 (26-03-2025)

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Brice Poreau, Francis Ramond, Radu Harbuz, Véronique Satre, Claire Barro, et al.. Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis. American Journal of Medical Genetics Part A, 2019, 179 (4), pp.650-654. ⟨10.1002/ajmg.a.61057⟩. ⟨hal-05006576⟩
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