Literature DB >> 2063923

Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs.

A Heimler1, J E Fox, J E Hershey, P Crespi.   

Abstract

A brother and sister born to normal, nonconsanguineous parents have a syndrome of profound sensorineural hearing deficiency, enamel hypoplasia limited to the permanent dentition, and nail abnormalities. This appears to be a previously unreported inherited syndrome.

Entities:  

Mesh：

Year:  1991        PMID： 2063923     DOI： 10.1002/ajmg.1320390214

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  10 in total

1.  Macular dystrophy in Heimler syndrome.

Authors:  Luiz H Lima; Irene A Barbazetto; Royce Chen; Lawrence A Yannuzzi; Stephen H Tsang; Richard F Spaide
Journal:  Ophthalmic Genet       Date:  2011-03-02       Impact factor: 1.803

2.  Identification of a Homozygous PEX26 Mutation in a Heimler Syndrome Patient.

Authors:  Youn Jung Kim; Yuichi Abe; Young-Jae Kim; Yukio Fujiki; Jung-Wook Kim
Journal:  Genes (Basel)       Date:  2021-04-26       Impact factor: 4.096

3.  Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

Authors:  Claire E L Smith; James A Poulter; Alex V Levin; Jenina E Capasso; Susan Price; Tamar Ben-Yosef; Reuven Sharony; William G Newman; Roger C Shore; Steven J Brookes; Alan J Mighell; Chris F Inglehearn
Journal:  Eur J Hum Genet       Date:  2016-06-15       Impact factor: 4.246

4.  Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.

Authors:  Christine Neuhaus; Tobias Eisenberger; Christian Decker; Sandra Nagl; Cornelia Blank; Markus Pfister; Ingo Kennerknecht; Cornelie Müller-Hofstede; Peter Charbel Issa; Raoul Heller; Bodo Beck; Klaus Rüther; Diana Mitter; Klaus Rohrschneider; Ute Steinhauer; Heike M Korbmacher; Dagmar Huhle; Solaf M Elsayed; Hesham M Taha; Shahid M Baig; Heidi Stöhr; Markus Preising; Susanne Markus; Fabian Moeller; Birgit Lorenz; Kerstin Nagel-Wolfrum; Arif O Khan; Hanno J Bolz
Journal:  Mol Genet Genomic Med       Date:  2017-07-06       Impact factor: 2.183

5.  Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female.

Authors:  Maria Rosaria Barillari; Marianthi Karali; Valentina Di Iorio; Maria Contaldo; Vincenzo Piccolo; Maria Esposito; Giuseppe Costa; Giuseppe Argenziano; Rosario Serpico; Marco Carotenuto; Gerarda Cappuccio; Sandro Banfi; Paolo Melillo; Francesca Simonelli
Journal:  Mol Genet Metab Rep       Date:  2020-06-20

Review 6.  Dysfunctional peroxisomal lipid metabolisms and their ocular manifestations.

Authors:  Chuck T Chen; Zhuo Shao; Zhongjie Fu
Journal:  Front Cell Dev Biol       Date:  2022-09-07

7.  The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.

Authors:  Malena Daich Varela; Priyam Jani; Wadih M Zein; Precilla D'Souza; Lynne Wolfe; Jennifer Chisholm; Christopher Zalewski; David Adams; Blake M Warner; Laryssa A Huryn; Robert B Hufnagel
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-08-31       Impact factor: 3.359

8.  Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

Authors:  Ilham Ratbi; Kim D Falkenberg; Manou Sommen; Nada Al-Sheqaih; Soukaina Guaoua; Geert Vandeweyer; Jill E Urquhart; Kate E Chandler; Simon G Williams; Neil A Roberts; Mustapha El Alloussi; Graeme C Black; Sacha Ferdinandusse; Hind Ramdi; Audrey Heimler; Alan Fryer; Sally-Ann Lynch; Nicola Cooper; Kai Ren Ong; Claire E L Smith; Christopher F Inglehearn; Alan J Mighell; Claire Elcock; James A Poulter; Marc Tischkowitz; Sally J Davies; Abdelaziz Sefiani; Aleksandr A Mironov; William G Newman; Hans R Waterham; Guy Van Camp
Journal:  Am J Hum Genet       Date:  2015-09-17       Impact factor: 11.025

9.  Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.

Authors:  Gema García-García; Iker Sanchez-Navarro; Elena Aller; Teresa Jaijo; Carla Fuster-Garcia; Ana Rodríguez-Munoz; Elena Vallejo; Juan José Tellería; Selma Vázquez; Sergi Beltrán; Sophia Derdak; Olga Zurita; Cristina Villaverde-Montero; Almudena Avila-Fernández; Marta Corton; Fiona Blanco-Kelly; Hakon Hakonarson; José M Millán; Carmen Ayuso
Journal:  Mol Vis       Date:  2020-03-18       Impact factor: 2.367

10.  Hiding in plain sight: genetic deaf-blindness is not always Usher syndrome.

Authors:  Genevieve Medina; Julia Perry; Andrea Oza; Margaret Kenna
Journal:  Cold Spring Harb Mol Case Stud       Date:  2021-08-02
  10 in total

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