Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Branchiootische Syndrom Typ 1

Branchiootische Syndrom Typ 1 ist eine autosomal dominante Erkrankung die durch Mutationen des EYA1-Gens hervorgerufen wird.

Gliederung

Branchiootische Syndrom
Branchiootische Syndrom Typ 1
EYA1
Branchiootische Syndrom Typ 3

Referenzen:

1.

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

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2.

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

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3.

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

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4.

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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5.

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

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6.

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

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7.

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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8.

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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9.

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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10.

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

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11.

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

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12.

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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13.

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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14.

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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