X-linked elliptocytosis with impaired growth is related to mutated AMMECR1

Gene. 2017 Mar 30;606:47-52. doi: 10.1016/j.gene.2017.01.001. Epub 2017 Jan 9.


In this study, we report a family with X-linked recessive syndrome caused by mutated AMMECR1 and characterized by elliptocytosis with or without anemia, midface hypoplasia, proportionate short stature and hearing loss. Recently, mutations in AMMECR1 were reported in two maternal half-brothers, presenting with nephrocalcinosis, midface hypoplasia and, in one of the siblings, deafness and elliptocytosis. AMMECR1 gene is localized in the critical region of contiguous deletion syndrome on Xq22.3 implicated in Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME complex). Interestingly, alternative splicing of exon 2, the same exon harboring the truncating mutation, was observed in the proband and in his unaffected mother. Alternative splicing of this exon is predicted to lead to an in-frame deletion. We provide further evidence that mutated AMMECR1 gene is responsible for this clinically recognizable X-linked condition with variable expressivity.

Keywords: AMMECR1 gene; Elliptocytosis; Genomics; X-linked.

MeSH terms

  • Craniofacial Abnormalities / diagnosis
  • Craniofacial Abnormalities / genetics*
  • Craniofacial Abnormalities / pathology
  • Craniofacial Abnormalities / physiopathology
  • DNA Mutational Analysis
  • Elliptocytosis, Hereditary / diagnosis
  • Elliptocytosis, Hereditary / genetics*
  • Elliptocytosis, Hereditary / pathology
  • Elliptocytosis, Hereditary / physiopathology
  • Gene Deletion
  • Genetic Diseases, X-Linked / diagnosis
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Diseases, X-Linked / pathology
  • Genetic Diseases, X-Linked / physiopathology
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Intellectual Disability / physiopathology
  • Male
  • Nephritis, Hereditary / diagnosis
  • Nephritis, Hereditary / genetics*
  • Nephritis, Hereditary / pathology
  • Nephritis, Hereditary / physiopathology
  • Proteins / chemistry
  • Proteins / genetics*
  • Proteins / metabolism


  • AMMECR1 protein, human
  • Proteins

Supplementary concepts

  • Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis