FRAXE syndrome

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Classification according to ICD-10
F70 Slight intellectual disability (IQ 50-69)
ICD-10 online (WHO version 2019)

The FRAXE syndrome or fragile XE syndrome is a congenital disease with the main characteristic of a mild mental retardation without accompanying malformations .

The intellectual deficit is minor. The syndrome is one of the trinucleotide diseases .

distribution

FRAXE is considered to be the most common nonsyndromic form of intellectual disability.

The frequency is given as 1 - 9 in 1,000,000, inheritance is X-linked - recessive .

root cause

The disease is based on mutations in the AFF2 gene at location Xq28 (or in the FMR2 gene).

Clinical manifestations

Clinically, learning and communication disorders , hyperactivity , attention disorders and autistic behavior are in the foreground.

literature

  • SJ Knight, AV Flannery, MC Hirst, L. Campbell, Z. Christodoulou, SR Phelps, J. Pointon, HR Middleton-Price, A. Barnicoat, ME Pembrey: Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. In: Cell. Vol. 74, No. 1, July 1993, pp. 127-134, PMID 8334699 .
  • GA Flynn, MC Hirst, SJ Knight, JN Macpherson, JC Barber, AV Flannery, KE Davies, VJ Buckle: Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation. In: Journal of medical genetics. Vol. 30, No. 2, February 1993, pp. 97-100, PMID 8445629 , PMC 1016261 (free full text).
  • E. Greene, V. Handa, D. Kumari, K. Usdin: Transcription defects induced by repeat expansion: fragile X syndrome, FRAXE mental retardation, progressive myoclonus epilepsy type 1, and Friedreich ataxia. In: Cytogenetic and genome research. Vol. 100, No. 1-4, 2003, pp. 65-76, PMID 14526165 (review).

Individual evidence

  1. ↑ a b FRAXE syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ Mental retardation, X-linked, FRAXE type.  In: Online Mendelian Inheritance in Man . (English)
  3. ↑ M. Bensaid, M. Melko, EG Bechara, L. Davidovic, A. Berretta, MV Catania, J. Gecz, E. Lalli, B. Bardoni: FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure. In: Nucleic acids research. Vol. 37, No. 4, March 2009, pp. 1269–1279, PMID 19136466 , PMC 2651778 (free full text)