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Am J Med Genet A ; 185(4): 1081-1090, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33403770

RESUMO

Pathogenic variants in Steroid 5 alpha reductase type 3 (SRD5A3) cause rare inherited congenital disorder of glycosylation known as SRD5A3-CDG (MIM# 612379). To date, 43 affected individuals have been reported. Despite the development of various dysmorphic features in significant number of patients, facial recognition entity has not yet been established for SRD5A3-CDG. Herein, we reported a novel SRD5A3 missense pathogenic variant c.460 T > C p.(Ser154Pro). The 3D structural modeling of the SRD5A3 protein revealed additional transmembrane α-helices and predicted that the p.(Ser154Pro) variant is located in a potential active site and is capable of reducing its catalytic efficiency. Based on phenotypes of our patients and all published SRD5A3-CDG cases, we identified the most common clinical features as well as some recurrent dysmorphic features such as arched eyebrows, wide eyes, shallow nasal bridge, short nose, and large mouth. Based on facial digital 2D images, we successfully designed and validated a SRD5A3-CDG computer based dysmorphic facial analysis, which achieved 92.5% accuracy. The current work integrates genotypic, 3D structural modeling and phenotypic characteristics of CDG-SRD5A3 cases with the successful development of computer tool for accurate facial recognition of CDG-SRD5A3 complex cases to assist in the diagnosis of this particular disorder globally.


Assuntos
3-Oxo-5-alfa-Esteroide 4-Desidrogenase/genética , Anormalidades Múltiplas/genética , Catarata/genética , Defeitos Congênitos da Glicosilação/genética , Proteínas de Membrana/genética , Atrofia Muscular/genética , 3-Oxo-5-alfa-Esteroide 4-Desidrogenase/ultraestrutura , Anormalidades Múltiplas/patologia , Adolescente , Catarata/complicações , Catarata/patologia , Criança , Pré-Escolar , Defeitos Congênitos da Glicosilação/complicações , Defeitos Congênitos da Glicosilação/patologia , Olho/patologia , Reconhecimento Facial , Fácies , Feminino , Humanos , Proteínas de Membrana/ultraestrutura , Atrofia Muscular/complicações , Atrofia Muscular/patologia , Mutação de Sentido Incorreto/genética
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