Smith-Lemli-Opitz syndrome: Bosnian and Herzegovinian experience

• Main Authors: Begic N, Begic Z, Begic E
• Format: Article
• Language: English
• Published: Sciendo 2021-07-01
• Series: Balkan Journal of Medical Genetics
• Subjects: cholesterol; 7-dehydrocholesterol reductase (dhcr7) gene; metabolism; smith-lemli-opitz syndrome (slos); treatment
• Online Access: https://doi.org/10.2478/bjmg-2021-0002
• ISSN: 1311-0160

The aim of this paper is to present a patient with the Smith-Lemli-Opitz syndrome (SLOS), with an overview of the modality of diagnosis, and the treatment of the patient. Exome analysis showed two variants in exon 6 of the 7-dehydrocholesterol reductase (DHCR7) gene have been determined: missense variant 1) NM_001360.2: c.470T>C (p.Leu157Pro) and 2) nonsense variant c.452G>A (W151*). Therefore the DHCR7 genotype of the patient is NM_001360.2: c.[470T>C; c.452G>A]. The proband, aged 6 years, has global developmental retardation with missing contact gaze and lacking motor development for her age and with peripheral spastic-enhanced muscle tone, and is under the supervision of children neurologists, gastroenterologists, nephrologists and cardiologists.