Branchio-oto-renal syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
A Branchiootorenal oto-renal syndrome (BOR syndrome) is a rare, congenital , highly variable malformation syndrome with the eponymous main characteristics anomalies of branchial (gill arches), ears and kidney (renal).
The term Melnick-Fraser Syndrome is also used synonymously with reference to the first authors of descriptions from 1975 by the US dentist and human geneticist Michael Melnick and colleagues and in 1978 by the Canadian human geneticist Frank Clarke Fraser .
distribution
The frequency is given as 1 in 40,000, the inheritance is autosomal dominant .
root cause
Depending on the underlying mutations , two forms can be distinguished:
- BOR1 (synonyms: branchiootorenal dysplasia; Melnick-Fraser syndrome; English BRANCHIOOTORENAL SYNDROME 1 ), autosomal dominant inheritance , mutations in the EYA1 gene at gene location 8q13.3. This gene is also involved in Fourman-Fourman syndrome .
- BOR2 ( English BRANCHIOOTORENAL SYNDROME 2 ), mutations in the gene SIX1 to 14q23.1 and SIX5 gene at 19q13.32.
These genes are involved in the formation of transcription factor complexes.
Clinical manifestations
Clinical criteria are:
- Outer ear abnormalities such as dysplastic auricle, preauricular appendage , fistula in front of the ear
- Hearing loss
- Neck fistulas or cysts anterior to the sternocleidomastoid muscle
- Kidney malformations, including renal agenesis , multicystic kidney dysplasia and kidney cysts
possibly lacrimal duct obstruction
Renal involvement can lead to renal insufficiency .
diagnosis
If the mutation is known, genetic counseling can be given, but the expressivity of the disease is very different.
therapy
Treatment consists of excising the fistulas or cysts, providing a hearing aid and regular monitoring of kidney function .
literature
- M. Holzmüller: Branchio-oto-renales syndrome (BOR syndrome) A dysplasia syndrome with gill arch anomalies, deafness and kidney disease. In: ENT. Vol. 48, No. 11, November 2000, pp. 839-842, PMID 11139890 .
- A. Musharraf, D. Kruspe, J. Tomasch, B. Besenbeck, C. Englert, K. Landgraf: BOR-syndrome-associated Eya1 mutations lead to enhanced proteasomal degradation of Eya1 protein. In: PLOS ONE . Vol. 9, No. 1, 2014, p. E87407, doi: 10.1371 / journal.pone.0087407 , PMID 24489909 , PMC 3906160 (free full text).
- R. König, S. Fuchs, C. Dukiet: Branchio-oto-renal (BOR) syndrome: variable expressivity in a five-generation pedigree. In: European Journal of Pediatrics. Vol. 153, No. 6, June 1994, pp. 446-450, PMID 8088301 .
Individual evidence
- ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ↑ M. Melnick, D. Bixler, K. Silk, H. Yune, WE Nance: Autosomal dominant branchiootorenal dysplasia. In: Birth defects original article series. Vol. 11, No. 5, 1975, pp. 121-128, PMID 1218203 .
- ^ FC Fraser, D. Ling, D. Clogg, B. Nogrady: Genetic aspects of the BOR syndrome-branchial fistulas, ear pits, hearing loss, and renal anomalies. In: American journal of medical genetics. Vol. 2, No. 3, 1978, pp. 241-252, doi: 10.1002 / ajmg.1320020305 , PMID 263442 .
- ^ Who named it Fraser
- ↑ a b c d BOR syndrome. In: Orphanet (Rare Disease Database).
- ^ Branchiootorenal syndrome 1. In: Online Mendelian Inheritance in Man . (English)
- ^ Branchiootorenal syndrome 2. In: Online Mendelian Inheritance in Man . (English)
