Literature DB >> 10051011

Variations in genetic assessment and recurrence risks quoted for childhood deafness: a survey of clinical geneticists.

M J Parker1, H Fortnum, I D Young, A C Davis.   

Abstract

We report here the results of a questionnaire survey of consultant clinical geneticists in the United Kingdom to which we had an 81% response rate. In this questionnaire we asked about: (1) the nature of services currently offered to families with hearing impaired children, (2) what recurrence risks they quoted in isolated non-syndromic cases, and (3) what they might suggest for improving the range of genetic services available at present. We noted great variation both in these services and in the recurrence risks quoted in isolated cases. Based on the results of the questionnaire, we have proposed a protocol for the investigation of permanent childhood hearing impairment, which we believe to be both comprehensive and practical in an outpatient clinic setting. It is only by improving existing clinical and social understanding and knowledge of childhood hearing impairment that it will become possible to use recent molecular advances to develop comprehensive and consistent services for these families.

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Year:  1999        PMID: 10051011      PMCID: PMC1734308     

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  19 in total

1.  Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.

Authors:  D P Kelsell; J Dunlop; H P Stevens; N J Lench; J N Liang; G Parry; R F Mueller; I M Leigh
Journal:  Nature       Date:  1997-05-01       Impact factor: 49.962

2.  Early diagnosis of Usher syndrome in infants and children.

Authors:  N M Young; M B Mets; T C Hain
Journal:  Am J Otol       Date:  1996-01

3.  Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.

Authors:  M M Carrasquillo; J Zlotogora; S Barges; A Chakravarti
Journal:  Hum Mol Genet       Date:  1997-11       Impact factor: 6.150

4.  Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene.

Authors:  X Z Liu; J Walsh; Y Tamagawa; K Kitamura; M Nishizawa; K P Steel; S D Brown
Journal:  Nat Genet       Date:  1997-11       Impact factor: 38.330

5.  Aplasia and hypoplasia of the vestibulocochlear nerve: diagnosis with MR imaging.

Authors:  J W Casselman; F E Offeciers; P J Govaerts; R Kuhweide; H Geldof; T Somers; G D'Hont
Journal:  Radiology       Date:  1997-03       Impact factor: 11.105

6.  Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).

Authors:  L A Everett; B Glaser; J C Beck; J R Idol; A Buchs; M Heyman; F Adawi; E Hazani; E Nassir; A D Baxevanis; V C Sheffield; E D Green
Journal:  Nat Genet       Date:  1997-12       Impact factor: 38.330

7.  Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.

Authors:  F Denoyelle; D Weil; M A Maw; S A Wilcox; N J Lench; D R Allen-Powell; A H Osborn; H H Dahl; A Middleton; M J Houseman; C Dodé; S Marlin; A Boulila-ElGaïed; M Grati; H Ayadi; S BenArab; P Bitoun; G Lina-Granade; J Godet; M Mustapha; J Loiselet; E El-Zir; A Aubois; A Joannard; J Levilliers; E N Garabédian; R F Mueller; R J Gardner; C Petit
Journal:  Hum Mol Genet       Date:  1997-11       Impact factor: 6.150

8.  Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification.

Authors:  V C Sheffield; Z Kraiem; J C Beck; D Nishimura; E M Stone; M Salameh; O Sadeh; B Glaser
Journal:  Nat Genet       Date:  1996-04       Impact factor: 38.330

9.  Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.

Authors:  B Coyle; R Coffey; J A Armour; E Gausden; Z Hochberg; A Grossman; K Britton; M Pembrey; W Reardon; R Trembath
Journal:  Nat Genet       Date:  1996-04       Impact factor: 38.330

10.  Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.

Authors:  L Zelante; P Gasparini; X Estivill; S Melchionda; L D'Agruma; N Govea; M Milá; M D Monica; J Lutfi; M Shohat; E Mansfield; K Delgrosso; E Rappaport; S Surrey; P Fortina
Journal:  Hum Mol Genet       Date:  1997-09       Impact factor: 6.150

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  3 in total

1.  Common genes for non-syndromic deafness are uncommon in sub-Saharan Africa: a report from Nigeria.

Authors:  Akeem O Lasisi; Guney Bademci; Joseph Foster; Susan Blanton; Mustafa Tekin
Journal:  Int J Pediatr Otorhinolaryngol       Date:  2014-08-23       Impact factor: 1.675

2.  Screening of connexin 26 in nonsyndromic hearing loss.

Authors:  Danielle Moreira; Daniela da Silva; Priscila Lopez; Jair Cortez Mantovani
Journal:  Int Arch Otorhinolaryngol       Date:  2014-04-11

3.  Deafness in children: a national survey of aetiological investigations.

Authors:  Shankar Rangan; Bernie Borgstein; Janet Lowe
Journal:  BMJ Open       Date:  2012-09-13       Impact factor: 2.692

  3 in total

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