title: Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene.
abstract: Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. It is the mildest form known to date of peroxisome biogenesis disorder caused by hypomorphic mutations of PEX1 and PEX6 genes. We report on a second Moroccan family with Heimler syndrome with early onset, severe visual impairment and important phenotypic overlap with Usher syndrome. The patient carried a novel homozygous missense variant c.3140T > C (p.Leu1047Pro) of PEX1 gene. As standard biochemical screening of blood for evidence of a peroxisomal disorder did not provide a diagnosis in the individuals with HS, patients with SNHL and retinal pigmentation should have mutation analysis of PEX1 and PEX6 genes.
authors.affiliation: Centre de génomique humaine, Faculté de médecine et pharmacie, Mohammed V University in Rabat, 10100, Morocco; Département de génétique médicale, Institut National d'Hygiène, BP 769 Agdal, 10090 Rabat, Morocco. Electronic address: i.ratbi@um5s.net.ma.
authors.forename: Ilham
authors.initials: I
authors.lastname: Ratbi
authors.affiliation: Centre de génomique humaine, Faculté de médecine et pharmacie, Mohammed V University in Rabat, 10100, Morocco; Département de génétique médicale, Institut National d'Hygiène, BP 769 Agdal, 10090 Rabat, Morocco.
authors.forename: Imane Cherkaoui
authors.initials: IC
authors.lastname: Jaouad
authors.affiliation: Service d'Ophtalmologie B, Hôpital des Spécialités, CHU Rabat, Morocco.
authors.forename: Hamza
authors.initials: H
authors.lastname: Elorch
authors.affiliation: Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester M13 9WL, UK.
authors.forename: Nada
authors.initials: N
authors.lastname: Al-Sheqaih
authors.affiliation: Departement de Pédodontie-Prévention, Faculté de Médecine Dentaire, Université Mohammed V, BP 6212 Madinat Al Irfane, 10100 Rabat, Morocco.
authors.forename: Mustapha
authors.initials: M
authors.lastname: Elalloussi
authors.affiliation: Centre de génomique humaine, Faculté de médecine et pharmacie, Mohammed V University in Rabat, 10100, Morocco.
authors.forename: Jaber
authors.initials: J
authors.lastname: Lyahyai
authors.affiliation: Service d'Ophtalmologie B, Hôpital des Spécialités, CHU Rabat, Morocco.
authors.forename: Amina
authors.initials: A
authors.lastname: Berraho
authors.affiliation: Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester M13 9WL, UK.
authors.forename: William G
authors.initials: WG
authors.lastname: Newman
authors.affiliation: Centre de génomique humaine, Faculté de médecine et pharmacie, Mohammed V University in Rabat, 10100, Morocco; Département de génétique médicale, Institut National d'Hygiène, BP 769 Agdal, 10090 Rabat, Morocco.
authors.forename: Abdelaziz
authors.initials: A
authors.lastname: Sefiani
mesh_terms: D000074183:ATPases Associated with Diverse Cellular Activities; D000251:Adenosine Triphosphatases / Q000235:genetics*; D000567:Amelogenesis Imperfecta / Q000150:complications / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D006720:Homozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009264:Nails, Malformed / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D018901:Peroxisomal Disorders / Q000235:genetics / Q000503:physiopathology; D010641:Phenotype; D012174:Retinitis Pigmentosa / Q000150:complications / Q000235:genetics* / Q000503:physiopathology
chemical_list: D008565:Membrane Proteins; D000251:Adenosine Triphosphatases; D000074183:ATPases Associated with Diverse Cellular Activities; C111808:PEX1 protein, human; C490759:PEX6 protein, human
keywords: Heimler syndrome; Moroccan; PEX1; Retinitis pigmentosa; Variant