Heimler Syndrome

S Mechaussier; I Perrault; H Dollfus; A Bloch-Zupan; N Loundon; L Jonard; S Marlin

doi:10.1007/978-3-030-60204-8_7

Heimler Syndrome

Adv Exp Med Biol. 2020:1299:81-87. doi: 10.1007/978-3-030-60204-8_7.

Authors

S Mechaussier¹, I Perrault¹, H Dollfus^{2

3}, A Bloch-Zupan^{4

5

6}, N Loundon^{7

8}, L Jonard⁸, S Marlin^{9

10}

Affiliations

¹ Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris University, Paris, France.
² Department of Medical Genetics, Institute of Medical Genetics of Alsace (IGMA), Strasbourg University Hospitals - Hautepierre Hospital, Strasbourg, France.
³ Laboratory of Medical Genetics, INSERM U1112, Institute of Medical Genetics of Alsace (IGMA), Strasbourg University, Strasbourg, France.
⁴ Strasbourg University, Faculty of Dental Medicine, Institute for Advanced Study (USIAS), Strasbourg, France.
⁵ Strasbourg University Hospitals (HUS), Oral Surgery and Oral Medecine Unit, Dental Clinic, Civil Hospital, Reference Center for Rare Oral and Dental Diseases, O-Rares, Filière Santé Maladies rares TETE COU, European Reference Network ERN CRANIO, Strasbourg, France.
⁶ Strasbourg University, Institute of Genetics and Molecular and Cellular Biology (IGBMC), Illkirch, France.
⁷ Pediatric ENT Department, Necker-Enfants Malades Hospital, Paris, France.
⁸ Reference Center for Rare Diseases "Genetic deafness", Filière Santé Maladies rares SENSGENE, European Reference Network ERN CRANIO, Federation of Genetic, Necker-Enfants Malades Hospital, Paris, France.
⁹ Reference Center for Rare Diseases "Genetic deafness", Filière Santé Maladies rares SENSGENE, European Reference Network ERN CRANIO, Federation of Genetic, Necker-Enfants Malades Hospital, Paris, France. sandrine.marlin@aphp.fr.
¹⁰ Laboratory of Embryology and Genetics of Malformations, INSERM UMR 1163, Institute of Genetic Diseases, Imagine and Paris University, Paris, France. sandrine.marlin@aphp.fr.

PMID: 33417209
DOI: 10.1007/978-3-030-60204-8_7

Abstract

Heimler syndrome is a rare syndrome associating sensorineural hearing loss with retinal dystrophy and amelogenesis imperfecta due to PEX1 or PEX6 biallelic pathogenic variations. This syndrome is one of the less severe forms of peroxisome biogenesis disorders. In this chapter, we will review clinical, biological, and genetic knowledges about the Heimler syndrome.

Keywords: Amelogenesis imperfecta; Hearing loss; Heimler syndrome; PEX1–PEX6; Retinal dystrophy.

Publication types

Review

MeSH terms

ATPases Associated with Diverse Cellular Activities / genetics
Amelogenesis Imperfecta* / genetics
Amelogenesis Imperfecta* / metabolism
Amelogenesis Imperfecta* / pathology
Amelogenesis Imperfecta* / physiopathology
Hearing Loss, Sensorineural* / genetics
Hearing Loss, Sensorineural* / metabolism
Hearing Loss, Sensorineural* / pathology
Hearing Loss, Sensorineural* / physiopathology
Humans
Membrane Proteins / genetics
Nails, Malformed* / genetics
Nails, Malformed* / metabolism
Nails, Malformed* / pathology
Nails, Malformed* / physiopathology
Peroxisomal Disorders* / genetics
Peroxisomal Disorders* / metabolism
Peroxisomal Disorders* / pathology
Peroxisomal Disorders* / physiopathology

Substances

Membrane Proteins
ATPases Associated with Diverse Cellular Activities
PEX1 protein, human
PEX6 protein, human

Supplementary concepts

Deafness enamel hypoplasia nail defects
Peroxisome biogenesis disorders