H syndrome: Clinical, histological and genetic investigation in Tunisian patients
| Autor: | Mourad Mokni, S. Fenniche, Meriem Jones, Khadija Sellami, Anissa Zaouak, Raja Jouini, Hager Jaouadi, Olfa Messaoud, Ridha Mrad, Mariem Chargui, Houda Hammami, Hamida Turki, Sonia Abdelhak, Rym Benkhalifa, Achraf Chadli Debbiche, Karima Chraiet |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Hypertrichosis Adult Male medicine.medical_specialty Contracture Tunisia Heart malformation Hearing loss Hearing Loss Sensorineural Hepatosplenomegaly Dermatology Nucleoside Transport Proteins 030207 dermatology & venereal diseases 03 medical and health sciences Exon Young Adult 0302 clinical medicine Rare Diseases Medicine Humans Genetic Testing Frameshift Mutation Genetic testing Skin medicine.diagnostic_test business.industry General Medicine Exons medicine.disease Hyperpigmentation Pedigree 030104 developmental biology Child Preschool Mutation (genetic algorithm) Female medicine.symptom business Histiocytosis |
| Zdroj: | The Journal of dermatology. 45(8) |
| ISSN: | 1346-8138 |
| Popis: | H syndrome is a rare autosomal recessive disorder with characteristic dermatological findings consisting of hyperpigmentation and hypertrichosis patches mainly located on the inner thighs and multisystemic involvement including hepatosplenomegaly, hearing loss, heart abnormalities and hypogonadism. The aim of this study was to conduct a clinical and genetic investigation in five unrelated Tunisian patients with suspected H syndrome. Hence, genetic analysis of the SLC29A3 gene was performed for four patients with a clinical diagnosis of H syndrome. We identified a novel frame-shift mutation in the SLC29A3 gene in a female patient with a severe clinical presentation. Furthermore, we report two mutations previously described, the p.R363Q mutation in a male patient and the p.P324L mutation in two patients of different age and sex. This paper extends the mutation spectrum of H syndrome by reporting a novel frame-shift mutation, the p.S15Pfs*86 in exon 2 of SLC29A3 gene and emphasizes the relevance of genetic testing for its considerable implications in early diagnosis and clinical management. |
| Databáze: | OpenAIRE |
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