Trisomy Xq28

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Classification according to ICD-10
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The trisomy Xq28 is a very rare congenital to the syndromic X-linked mental retardation scoring disease with the main features of mental retardation , hypotonia and repeated infections .

Synonyms are: duplication Xq, distal; English Xq28 duplication syndrome , former names: intellectual disability, X-linked, type Lubs; Lubs Arena Syndrome; X-linked intellectual disability-hypotension-recurrent infection syndrome

The first description is from 1999 by the US pediatrician and human geneticist Herbert Lubs and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, so far more than 200 people have been reported. The inheritance is X-linked .

root cause

Of the disease are duplications of the MECP2 - gene on the X chromosome locus q28 based encoding the methyl-CpG-binding protein. 2

The MECP2 gene is u. a. still involved in the following diseases:

Clinical manifestations

Clinical criteria are:

diagnosis

The diagnosis is based on clinical findings and is confirmed by human genetic testing .

Differential diagnostics

The Prader-Willi syndrome and the ATR-X syndrome are to be distinguished .

treatment

Treatment can only be symptom-related and multidisciplinary.

forecast

A good half of those affected die, often due to infection, as early as infancy, before they reach the age of 25.

literature

  • S. El Chehadeh, R. Touraine, F. Prieur, W. Reardon, T. Bienvenu, S. Chantot-Bastaraud, M. Doco-Fenzy, E. Landais, C. Philippe, N. Marle, P. Callier, AL Mosca-Boidron, F. Mugneret, N. Le Meur, A. Goldenberg, AM Guerrot, P. Chambon, V. Satre, C. Coutton, PS Jouk, F. Devillard, K. Dieterich, A. Afenjar, L. Burglen , ML Moutard, MC Addor, S. Lebon, D. Martinet, JL Alessandri, B. Doray, M. Miguet, D. Devys, P. Saugier-Veber, S. Drunat, B. Aral, V. Kremer, S. Rondeau, AC Tabet, J. Thevenon, C. Thauvin-Robinet, N. Perreton, V. Des Portes, L. Faivre: Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counseling? In: Clinical genetics. Vol. 91, No. 4, April 2017, pp. 576-588, doi: 10.1111 / cge.12898 , PMID 27761913 .
  • AW El-Hattab, CP Schaaf, P. Fang, E. Roeder, VE Kimonis, JA Church, A. Patel, SW Cheung: Clinical characterization of int22h1 / int22h2-mediated Xq28 duplication / deletion: new cases and literature review. In: BMC medical genetics. Vol. 16, March 2015, p. 12, doi: 10.1186 / s12881-015-0157-2 , PMID 25927380 , PMC 4422130 (free full text).

Individual evidence

  1. ↑ a b c d e MECP2 duplication syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ H. Lubs, F. Abidi, JA Bier, D. Abuelo, L. Ouzts, K. Voeller, E. Fennell, RE Stevenson, CE Schwartz, F. Arena: XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28. In: American journal of medical genetics. Vol. 85, No. 3, July 1999, pp. 243-248, PMID 10398236 .
  3. ^ Genetics Home Reference
  4. ^ Mental retardation, X-linked syndromic, Lubs type.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ Chromosome Xq28 duplication syndrome.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ MECP2.  In: Online Mendelian Inheritance in Man . (English)
  7. ↑ Encephalopathy, neonatal severe - microcephaly. In: Orphanet (Rare Disease Database).

Web links