Smith-Lemli-Opitz Syndrome: Bosnian and Herzegovinian Experience

N Begic; Z Begic; E Begic

doi:10.2478/bjmg-2021-0002

Smith-Lemli-Opitz Syndrome: Bosnian and Herzegovinian Experience

Balkan J Med Genet. 2021 Jul 27;24(1):99-102. doi: 10.2478/bjmg-2021-0002. eCollection 2021 Jun.

Authors

N Begic¹, Z Begic¹, E Begic^{2

3}

Affiliations

¹ Department of Cardiology, Paediatric Clinic, Clinical Centre University of Sarajevo, Sarajevo, Bosnia and Herzegovina.
² Department of Cardiology, General Hospital "Prim. Dr. Abdulah Nakas,"Sarajevo, Bosnia and Herzegovina.
³ Department of Pharmacology, Sarajevo Medical School, Sarajevo School of Science and Technology, Sarajevo, Bosnia and Herzegovina.

Abstract

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.

Keywords: 7-dehydrocholesterol reductase (DHCR7) gene; Cholesterol; Metabolism; Smith-Lemli-Opitz syndrome (SLOS); Treatment.