Smith-Lemli-Opitz syndrome: Bosnian and Herzegovinian experience-Reference-Cited by-同舟云学术

Smith-Lemli-Opitz syndrome: Bosnian and Herzegovinian experience

Published:2021-06-01 Issue:1 Volume:24 Page:99-102
ISSN:1311-0160
Container-title:Balkan Journal of Medical Genetics
language:en
Short-container-title:

Author:

Begic N¹,Begic Z¹,Begic E²³

Affiliation:

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

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.

Publisher

Walter de Gruyter GmbH

Subject

Genetics (clinical),Genetics

Link

https://www.sciendo.com/pdf/10.2478/bjmg-2021-0002

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