SMITH-LEMLI-OPITZ SYNDROME:
BOSNIAN AND HERZEGOVINIAN EXPERIENCE
Begic N1,*, Begic Z1, Begic E2,3
*Corresponding Author: Nedim Begic, M.D., M.A., Department of Cardiology, Paediatric Clinic,
Clinical Centre University of Sarajevo, Patriotske Lige 81, Sarajevo, Bosnia and Herzegovina. E-mail:
nedim_begic91@hot mail. com
page: 99
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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.
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