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Updated: Nov 22, 2025

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SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition.

Ikhlas Ben Ayed1,2,3, Wael Ouarda4, Fakher Frikha5

  • 1Laboratory of Molecular and Cellular Screening Processes (LPCMC), LR15CBS07, Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.

American Journal of Medical Genetics. Part A
|January 6, 2021
PubMed

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Summary

This study identifies a new pathogenic variant in SRD5A3, aiding in the diagnosis of SRD5A3-congenital disorder of glycosylation (CDG). A novel computer tool was developed for accurate facial recognition of SRD5A3-CDG patients.

Area of Science:

  • Genetics and Molecular Biology
  • Biochemistry
  • Medical Genetics

Background:

  • Steroid 5 alpha reductase type 3 (SRD5A3) pathogenic variants cause SRD5A3-congenital disorder of glycosylation (CDG), a rare inherited condition.
  • While dysmorphic features are common in SRD5A3-CDG, a distinct facial recognition entity has not been established.
  • Previous reports detail 43 affected individuals, highlighting the need for improved diagnostic tools.

Purpose of the Study:

  • To report a novel SRD5A3 pathogenic variant and analyze its structural impact.
  • To identify common clinical and dysmorphic features associated with SRD5A3-CDG.
  • To develop and validate a computer-based tool for accurate facial recognition and diagnosis of SRD5A3-CDG.

Main Methods:

  • Identification and characterization of a novel SRD5A3 missense variant (c.460T>C, p.(Ser154Pro)).
Keywords:
3D structure modelingcongenital disorders of glycosylationexome-clinical sequencingfacial recognitionpolyprenol reductase

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  • 3D structural modeling of the SRD5A3 protein to predict the variant's effect on catalytic efficiency.
  • Phenotypic analysis of patient data and published cases, including facial 2D image analysis.
  • Development and validation of a computer-based dysmorphic facial analysis tool.

    • Main Results:

    • A novel pathogenic missense variant, c.460T>C p.(Ser154Pro), in SRD5A3 was identified and structurally modeled.
    • The p.(Ser154Pro) variant is predicted to be in a potential active site, potentially reducing catalytic efficiency.
    • Common dysmorphic features include arched eyebrows, wide eyes, a shallow nasal bridge, short nose, and a large mouth.
    • A computer-based facial analysis tool achieved 92.5% accuracy in recognizing SRD5A3-CDG.

    Conclusions:

    • The study integrates genotypic, structural, and phenotypic data for SRD5A3-CDG.
    • A novel pathogenic SRD5A3 variant was characterized, providing insights into disease mechanisms.
    • The developed computer tool significantly aids in the global diagnosis of SRD5A3-CDG by enabling accurate facial recognition.