Literature DB >> 23868653

[Middle ear salivary gland choristoma related to branchio-oto-renal syndrome diagnosed by array-CGH].

P Amrhein1, C Sittel, C Spaich, J Kohlhase, R Boppert, P Kohlhof, A Koitschev.   

Abstract

Branchio-oto-renal (BOR) syndrome is characterized by ear malformations associated with sensorineural or mixed hearing loss. In addition, preauricular tags, preauricular pits, branchial cleft fistulas and cysts, as well as renal dysplasia are seen. A genetic mutation on chromosome 8, either autosomal dominantly inherited or occuring as a spontaneous mutation, is the cause in the majority of cases. Using array-based comparative genomic hybridization (CGH), it is possible to detect even the smallest genetic changes. Salivary gland choristoma in the middle ear is very rare. Surgical removal and histological clarification are required.

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Year:  2014        PMID： 23868653     DOI： 10.1007/s00106-013-2728-x

Source DB:  PubMed          Journal:  HNO        ISSN： 0017-6192            Impact factor:   1.284


  10 in total

1.  Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.

Authors:  Pauline Krug; Vincent Morinière; Sandrine Marlin; Valérie Koubi; Heinz D Gabriel; Estelle Colin; Dominique Bonneau; Rémi Salomon; Corinne Antignac; Laurence Heidet
Journal:  Hum Mutat       Date:  2011-02       Impact factor: 4.878

2.  Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.

Authors:  Dana J Orten; Stephanie M Fischer; Jessica L Sorensen; Uppala Radhakrishna; Cor W R J Cremers; Henri A M Marres; Guy Van Camp; Katherine O Welch; Richard J H Smith; William J Kimberling
Journal:  Hum Mutat       Date:  2008-04       Impact factor: 4.878

3.  Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances.

Authors:  S Solinas-Toldo; S Lampel; S Stilgenbauer; J Nickolenko; A Benner; H Döhner; T Cremer; P Lichter
Journal:  Genes Chromosomes Cancer       Date:  1997-12       Impact factor: 5.006

4.  Salivary gland choristoma of the middle ear.

Authors:  Murat Enoz; Yusufhan Suoglu
Journal:  Laryngoscope       Date:  2006-06       Impact factor: 3.325

5.  A family with the branchio-oto-renal syndrome: clinical and genetic correlations.

Authors:  Alkis M Pierides; Yiannis Athanasiou; Kyproula Demetriou; Michael Koptides; C Constantinou Deltas
Journal:  Nephrol Dial Transplant       Date:  2002-06       Impact factor: 5.992

6.  Phenotypic manifestations of branchio-oto-renal syndrome.

Authors:  A Chen; M Francis; L Ni; C W Cremers; W J Kimberling; Y Sato; P D Phelps; S C Bellman; M J Wagner; M Pembrey
Journal:  Am J Med Genet       Date:  1995-09-25

7.  Familial branchio-oto-renal dysplasia: a new addition to the branchial arch syndromes.

Authors:  M Melnick; D Bixler; W E Nance; K Silk; H Yune
Journal:  Clin Genet       Date:  1976-01       Impact factor: 4.438

Review 8.  Branchio-oto-renal syndrome.

Authors:  Amit Kochhar; Stephanie M Fischer; William J Kimberling; Richard J H Smith
Journal:  Am J Med Genet A       Date:  2007-07-15       Impact factor: 2.802

9.  Salivary gland choristoma of the middle ear: a case report and review of the literature.

Authors:  J M Kartush; M D Graham
Journal:  Laryngoscope       Date:  1984-02       Impact factor: 3.325

10.  Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss.

Authors:  F C Fraser; J R Sproule; F Halal
Journal:  Am J Med Genet       Date:  1980
  10 in total
  1 in total

1.  A de novo and novel mutation in the EYA1 gene in a Chinese child with branchio-oto-renal syndrome.

Authors:  Guomin Li; Qian Shen; Li Sun; Haimei Liu; Yu An; Hong Xu
Journal:  Intractable Rare Dis Res       Date:  2018-02
  1 in total

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