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. 2021 Dec 23;13(1):27. doi: 10.3390/genes13010027

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© 2021 by the authors.

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).

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(P38) A 7-year-old male had congenital cataracts in both eyes. Laboratory examination showed elevated ferritin level 1205.3 ng/mL (reference range: 23.9~336.2 ng/mL) without iron overload. The inheritance pattern was consistent with autosomal dominant. (A) Slit-lamp examination showed congenital cataracts since early childhood. (B) Integrative genomic viewer showed FTL c.-168G>T variant in upstream to starting codon. This region was included in our panel, and the variant was previously reported as pathogenic. (C) The 5′ untranslated region of exon 1 in FTL gene was not covered in commercially available exome sequencing. Molecular diagnosis of hyperferritinemia-cataract syndrome enables us to avoid unnecessary investigations or treatment such as repeated phlebotomy or liver biopsy.