Partington Syndrome

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

The Partington syndrome is a very rare congenital disease with the characteristics of a beginning in childhood syndromic X-linked mental retardation (S-XLMR), dysarthria and dystonic movements of the hand .

Synonyms are: mental retardation, X-linked - dystonia - dysarthria; Partington-Mulley Syndrome; English PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS; MENTAL RETARDATION, X-LINKED, SYNDROMIC 1; MRXS1; MENTAL RETARDATION, X-LINKED, WITH DYSTONIC MOVEMENTS, ATAXIA, AND SEIZURES; MENTAL RETARDATION, X-LINKED 36; MRX36

The name refers to the first author of the first description from 1988 by the Australian human geneticist Michael W. Partington (and his colleague John C. Mulley ).

The disease is not to be confused with:

Partington-Anderson syndrome , outdated term for Cohen syndrome .

Partington Disease , synonyms: Partington Syndrome II; Amyloidosis, cutaneous, X-linked; Amyloidosis, cutaneous, familial form; PDR; XLPDR; English Partington amyloidosis

distribution

The frequency is given as less than 1 in 1,000,000, so far only a few patients have been described.

The inheritance is X-linked - recessive .

root cause

The disease is based on mutations in the ARX (Aristaless-related homeobox) gene at location Xp21.3 or Xp22.13.

literature

MW Partington, G. Turner, J. Boyle, J. Gécz: Three new families with X-linked mental retardation caused by the 428-451 dup (24bp) mutation in ARX. In: Clinical genetics. Vol. 66, No. 1, July 2004, pp. 39-45, doi: 10.1111 / j.0009-9163.2004.00268.x , PMID 15200506 .
SG Frints, M. Borghgraef, G. Froyen, P. Marynen, JP Fryns: Clinical study and haplotype analysis in two brothers with Partington syndrome. In: American journal of medical genetics. Vol. 112, No. 4, November 2002, pp. 361-368, doi: 10.1002 / ajmg.10630 , PMID 12376938 .
K. Grønskov, B. Diness, M. Stahlhut, M. Zilmer, Z. Tümer, AM Bisgaard, K. Brøndum-Nielsen: Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype. In: European journal of medical genetics. Vol. 57, No. 6, 2014 May-Jun, pp. 284–287, doi: 10.1016 / j.ejmg.2014.03.009 , PMID 24727054 .

Individual evidence

↑ ^a ^b Partington syndrome. In: Orphanet (Rare Disease Database).
↑ MW Partington, JC Mulley, GR Sutherland, A. Hockey, A. Thode, G. Turner: X-linked mental retardation with dystonic movements of the hands. In: American journal of medical genetics. Vol. 30, No. 1-2, 1988 May-Jun, pp. 251-262, PMID 3177452 .
^ Partington-Anderson syndrome. In: Orphanet (Rare Disease Database).
↑ Orphanet Cohen Syndrome
↑ X-linked reticular pigmentation disorder with systemic manifestations. In: Orphanet (Rare Disease Database).
↑ Partington syndrome. In: Online Mendelian Inheritance in Man . (English)

Web links

Rare Diseases

[Orpha-1] Partington syndrome. In: Orphanet (Rare Disease Database).

[2] MW Partington, JC Mulley, GR Sutherland, A. Hockey, A. Thode, G. Turner: X-linked mental retardation with dystonic movements of the hands. In: American journal of medical genetics. Vol. 30, No. 1-2, 1988 May-Jun, pp. 251-262, PMID 3177452 .

[3] Partington-Anderson syndrome. In: Orphanet (Rare Disease Database).

[4] Orphanet Cohen Syndrome

[5] X-linked reticular pigmentation disorder with systemic manifestations. In: Orphanet (Rare Disease Database).

[6] Partington syndrome. In: Online Mendelian Inheritance in Man . (English)