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Case Reports
. 2024 Apr;194(4):e63481.
doi: 10.1002/ajmg.a.63481. Epub 2023 Nov 20.

Two novel heterozygous exonic deletions lead to Chanarin-Dorfman syndrome in a patient with congenital ichthyosis, sensorineural hearing loss, and liver dysfunction

Sofia Zoullas  1 , Dayna Morel  1 , Faraz Zafeer  1 , Paulo Borjas-Mendoza  1 , Simon Angeli  2 , Yi Zhou  3 , Guney Bademci  1 , Mustafa Tekin  1
Affiliations
Case Reports

Two novel heterozygous exonic deletions lead to Chanarin-Dorfman syndrome in a patient with congenital ichthyosis, sensorineural hearing loss, and liver dysfunction

Sofia Zoullas et al. Am J Med Genet A. 2024 Apr.

Abstract

Chanarin-Dorfman syndrome is an autosomal recessively inherited disorder characterized by ichthyosis, sensorineural hearing loss, and hepatic dysfunction. We report on a 60-year-old female of Venezuelan descent who presented with congenital ichthyosis, progressive sensorineural hearing loss, and liver cirrhosis. We identify a heterozygous copy number deletion involving exon 1 and another heterozygous deletion involving exon 3 of the ABHD5 gene. Exon 2 is preserved. Both deletions were confirmed with RT-PCR. RNAseq from peripheral blood shows a reduction of ABHD5 expression overall and an absence of exon 3 expression, confirming the deleterious effects of the identified deletions. We present exonic deletions as a potentially common type of ABHD5 variation.

Keywords: ABHD5; Chanarin-Dorfman syndrome; ichthyosis; intracellular lipid accumulation; sensorineural hearing loss.

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References

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