Case Report: Identification of a CRYGD variant in a family with congenital cataract - Takeaways - MDSpire
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Family Case Study: Discovery of a CRYGD Variant Linked to Congenital Cataract

  • By

  • Junjie Deng

  • Jianli Ma

  • Yixiao Li

  • Wenjing Wang

  • Chunli Ma

  • Mengxue Li

  • Yaqin Jiang

  • Han Zhang

  • June 10, 2026

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  • 1

    Congenital cataract is a significant cause of childhood visual impairment, with genetic factors playing a major role in its etiology.

  • 2

    A boy aged 4–5 years with congenital cataract was found to have a heterozygous CRYGD c.391T>C (p.Trp131Arg) variant.

  • 3

    Sanger sequencing confirmed that the CRYGD variant co-segregated with the disease phenotype in affected family members.

  • 4

    Additional variants identified by whole-exome sequencing showed less consistent segregation with the familial phenotype.

  • 5

    The CRYGD variant was classified as a variant of uncertain significance according to ACMG criteria, necessitating further functional studies.

Original Source(s)

Case Report: Identification of a CRYGD variant in a family with congenital cataract

  • by Junjie Deng, Jianli Ma, Yixiao Li, Wenjing Wang, Chunli Ma, Mengxue Li, Yaqin Jiang, Han Zhang

  • June 10, 2026

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