Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Branchiootische Syndrom

Die Existenz eines eigenständigen Krankheitsbildes Branchiootische Syndrom (BOS) ist umstritten zumal das Branchio-Oto-Renale Syndrom (BOR) im Typ1 jeweils von Mutationen des gleichen Gens ausgelöst werden. Das BOS1 ist somit ein BOR1 ohne renaler Beteiligung. Darüber hinaus scheint nach unseren bisherigen Kenntnissen allerdings keine Überlappung mehr zu bestehen. Drei Typen sind bisher bekannt. Für den Typ 2 ist das verantwortliche Gen noch nicht gefunden.

Symptome

Schwerhörigkeit
Die Schwerhörigkeit beim Branchiootischen Syndrom ist gemischt (Innenohr- und Schalleitungsschwerhörigkeit). Sie beruht auf Fehlbildungen des äußeren Gehörganges (Atresie bis Stenose) und unzureichender Ausbildung von Cochlea und Labyrinth.

Gliederung

Angeborene Fehlbildungen des Urogenitalsystems
Autosomal dominantes Robinow-Syndrom 1
BNAR-Syndrom
Branchio-Oto-Renale Dysplasie
Branchiootische Syndrom
Branchiootische Syndrom Typ 1
EYA1
Branchiootische Syndrom Typ 3
SIX1
Denys-Drash-Syndrom
Fraser-Syndrom
Frasier-Syndrom
Goldberg-Shprintzen-Syndrom
Mowat-Wilson-Syndrom
Nierenzysten und Diabetes (RCAD)
Papillorenales Syndrom
Renal Dysplasie mit Hypopituitarismus und Diabetes
Renal-hepatisch-pankreatische Dysplasie
Renale Hypodysplasie/Aplasie
Renotubuläre Dysgenesie
SERKAL-Syndrom
Syndromische Microphthalmie 6
Vesicoureteraler Reflux
WAGR-Syndrom

Referenzen:

1.

Hoskins BE et al. (2007) Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.

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2.

Ruf RG et al. (2003) A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3.

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3.

Ruf RG et al. (2004) SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.

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4.

Sanggaard KM et al. (2007) Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.

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5.

Rowley PT et al. (1969) Familial hearing loss associated with branchial fistulas.

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6.

Vincent C et al. () BOR and BO syndromes are allelic defects of EYA1.

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7.

Azuma N et al. (2000) Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies.

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8.

Kumar S et al. (2000) Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications.

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9.

Fitch N et al. () The temporal bone in the preauricular pit, cervical fistula, hearing loss syndrome.

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10.

FOURMAN P et al. (1955) Hereditary deafness in family with ear-pits (fistula auris congenita).

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11.

WILDERVANCK LS et al. (1962) Hereditary malformations of the ear in three generations. Marginal pits, pre-auricular appendages, malformations of the auricle and conductive deafness.

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12.

Spruijt L et al. (2006) Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum.

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13.

Marres HA et al. (1991) Congenital conductive or mixed deafness, preauricular sinus, external ear anomaly, and commissural lip pits: an autosomal dominant inherited syndrome.

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14.

Haan EA et al. (1989) Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q.

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15.

Baker BR et al. (1966) Pits of the lip commissures in Caucasoid males.

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16.

Melnick M et al. (1978) Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders.

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17.

Cremers CW et al. (1981) Otological aspects of the earpit-deafness syndrome.

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18.

Kalatzis V et al. (1996) Characterization of a translocation-associated deletion defines the candidate region for the gene responsible for branchio-oto-renal syndrome.

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19.

Gu JZ et al. (1996) Detection of a megabase deletion in a patient with branchio-oto-renal syndrome (BOR) and tricho-rhino-phalangeal syndrome (TRPS): implications for mapping and cloning the BOR gene.

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20.

Kumar S et al. (1998) Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13.

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21.

Stratakis CA et al. (1998) Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss, and ear pits, and exclusion of the branchio-oto-renal (BOR) syndrome gene locus (chromosome 8q13.3).

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