OPHN1 syndrome

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Classification according to ICD-10
Q04.3 Other reduction deformities of the brain
ICD-10 online (WHO version 2019)

The OPHN1 syndrome is a very rare congenital disorder belonging to the syndromic X-linked mental retardation with the main characteristics of mental retardation combined with hypoplasia of the cerebellum .

Synonyms are: X-linked mental retardation with cerebellar hypoplasia; Oligophrenin 1 syndrome; OPHN1 XLMR; English OPHN1- related XLID; OPHN1 Deficiency; X-linked intellectual disability-cerebellar hypoplasia syndrome; Intellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearance; X-linked Intellectual Deficit with Cerebellar Hypoplasia; Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance

The first description is from 1998 by the French doctors Pierre Billuart, Thierry Bienvenu, Nathalie Ronce and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, so far 12 families have been reported. The inheritance is autosomal dominant .

root cause

The disease are mutations in OPHN1 - gene on the X chromosome locus q12 based encoding Oligophrenin1.

Clinical manifestations

Clinical criteria are:

In addition, there may be cryptorchidism , hypoplastic genitals and facial features such as a long face, prominent forehead, deep-set eyes and large auricles.

Slight forms of learning difficulties, strabismus and facial abnormalities can occur in female carriers.

diagnosis

Medical imaging reveals changes in the cerebellum with hypoplasia, dysgenesis and cleft formation in the posterior parts of the cerebellar worm, as well as atrophy of the cerebral cortex with enlarged cerebral ventricles . The diagnosis is confirmed human genetically .

Individual evidence

  1. ↑ a b c d Mental retardation, X-linked - cerebellar hypoplasia. In: Orphanet (Rare Disease Database).
  2. ↑ P. Billuart, T. Bienvenu, N. Ronce, V. des Portes, MC Vinet, R. Zemni, H. Roest Crollius, A. Carrié, F. Fauchereau, M. Cherry, S. Briault, B. Hamel, JP Fryns, C. Beldjord, A. Kahn, C. Moraine, J. Chelly: Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. In: Nature. Vol. 392, No. 6679, April 1998, pp. 923-926, doi: 10.1038 / 31940 , PMID 9582072 .
  3. ^ Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance.  In: Online Mendelian Inheritance in Man . (English)

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