The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.
ATPases Associated with Diverse Cellular Activities
/ genetics
Adolescent
Adult
Amelogenesis Imperfecta
/ complications
Child
Female
Genetic Counseling
Hearing Loss, Sensorineural
/ complications
Humans
Male
Membrane Proteins
/ genetics
Nails, Malformed
/ complications
Pedigree
Peroxisomal Disorders
/ complications
Phenotype
Retinal Degeneration
/ diagnosis
Young Adult
amelogenesis imperfect
heimler syndrome
peroxisomal disorders
retinal degeneration
sensorineural hearing loss
Journal
American journal of medical genetics. Part C, Seminars in medical genetics
ISSN: 1552-4876
Titre abrégé: Am J Med Genet C Semin Med Genet
Pays: United States
ID NLM: 101235745
Informations de publication
Date de publication:
09 2020
09 2020
Historique:
received:
03
06
2020
revised:
14
07
2020
accepted:
21
07
2020
pubmed:
1
9
2020
medline:
3
6
2021
entrez:
1
9
2020
Statut:
ppublish
Résumé
The spectrum of peroxisomal disorders is wide and comprises individuals that die in the first year of life, as well as people with sensorineural hearing loss, retinal dystrophy and amelogenesis imperfecta. In this article, we describe three patients; two diagnosed with Heimler syndrome and a third one with a mild-intermediate phenotype. We arrived at these diagnoses by conducting complete ophthalmic (National Eye Institute), auditory (National Institute of Deafness and Other Communication Disorders), and dental (National Institute of Dental and Craniofacial Research) evaluations, as well as laboratory and genetic testing. Retinal degeneration with macular cystic changes, amelogenesis imperfecta, and sensorineural hearing loss were features shared by the three patients. Patients A and C had pathogenic variants in PEX1 and Patient B, in PEX6. Besides analyzing these cases, we review the literature regarding mild peroxisomal disorders, their pathophysiology, genetics, differential diagnosis, diagnostic methods, and management. We suggest that peroxisomal disorders are considered in every child with sensorineural hearing loss and retinal degeneration. These patients should have a dental evaluation to rule out amelogenesis imperfecta as well as audiologic examination and laboratory testing including peroxisomal biomarkers and genetic testing. Appropriate diagnosis can lead to better genetic counseling and management of the associated comorbidities.
Identifiants
pubmed: 32866347
doi: 10.1002/ajmg.c.31823
pmc: PMC8117942
mid: NIHMS1698310
doi:
Substances chimiques
Membrane Proteins
0
ATPases Associated with Diverse Cellular Activities
EC 3.6.4.-
PEX1 protein, human
EC 3.6.4.-
PEX6 protein, human
EC 3.6.4.-
Types de publication
Journal Article
Research Support, N.I.H., Intramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
618-630Subventions
Organisme : Intramural NIH HHS
ID : ZIA EY000565
Pays : United States
Informations de copyright
Published [2020]. This article is a U.S. Government work and is in the public domain in the USA.
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