Compound heterozygous SLC29A3 mutation causes H syndrome in a Moroccan patient: A case report.
H syndrome is an autosomal recessive syndrome, which affects the skin and some vital organs, it is caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter hENT3. This report describes a patient with typical features of H syndrome. Based on the patient's clinical features, SLC29A3 was selected for molecular investigation. Through direct sequencing, a compound heterozygous alteration in the SLC29A3 gene was found. The c.243delA frameshift mutation leading to a premature termination, resulting in a truncated protein, and a splice site mutation c.300+1G>C predicted to cause a splicing error. This contribution extends the clinical variability of compound heterozygous SLC29A3 mutations resulting in an additional multisystemic manifestation of the clinical spectrum of SLC29A3 disorders.
Pasteur Institute, Human Molecular Genetic Laboratory, Casablanca, Morocco.
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Bakhchane
Pasteur Institute, Human Molecular Genetic Laboratory, Casablanca, Morocco.
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Kindil
Pasteur Institute, Human Molecular Genetic Laboratory, Casablanca, Morocco.
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Charoute
Department of Dermatology, Hospital University Ibn Rochd, Casablanca, Morocco.
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Benchikhi
Department of Dermatology, Hospital University Ibn Rochd, Casablanca, Morocco.
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Khadir
Laboratory of Human Genetics and Molecular Pathology, Faculty of medicine, Hassan II University, Casablanca, Morocco.
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Nadifi
Department of Dermatology, Hospital University Ibn Rochd, Casablanca, Morocco.
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Baline
Université Hassan II Ain Chock, Laboratoire de Physiologie et génétique moléculaire, Km 8 Route d'El Jadida, BP 5366 Maarif, 20100 Casablanca, Morocco.
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Roky
Pasteur Institute, Human Molecular Genetic Laboratory, Casablanca, Morocco. Electronic address: hamid.barakat@pasteur.ma.
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Barakat
D000293:Adolescent; D005091:Exons / Q000235:genetics; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D017495:Hyperpigmentation / Q000235:genetics*; D007674:Kidney Diseases / Q000235:genetics* / Q000601:surgery; D009018:Morocco; D020125:Mutation, Missense; D009392:Nephrectomy; D033703:Nucleoside Transport Proteins / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D022821:RNA Splice Sites / Q000235:genetics*; D013577:Syndrome; D014648:Varicose Veins / Q000235:genetics
D033703:Nucleoside Transport Proteins; D022821:RNA Splice Sites; C501424:SLC29A3 protein, human
Direct sequencing; H syndrome; Morocco; Mutation; SLC29A3