AI Article Synopsis
- Biallelic variants in the LSS gene are linked to various syndromes, including alopecia-intellectual disability syndrome and cataracts.
- A case study of a Chinese girl revealed congenital alopecia universalis, cataract, esotropia, and nystagmus due to specific variants in the LSS gene.
- The findings suggest a new classification for LSS-related diseases, termed congenital alopecia-cataract syndrome (CACS), enhancing the understanding of this genetic disorder.
Article Abstract
Biallelic variants in the LSS gene have been reported in individuals affected by alopecia-intellectual disability syndrome 4, cataract 44, hypotrichosis 14, and palmoplantar keratoderma-congenital alopecia syndrome type 2. The present report described a Chinese girl with congenital alopecia universalis, cataract, esotropia, and nystagmus caused by compound heterozygous variants of c.1025T>G (p.Ile342Ser) and previously unreported c.1011G>A (p.Pro337=) in the LSS gene. Minigene assay confirmed the synonymous variant Pro337= at the edge of exon 9 could produce a novel splice site, leading to a 46-bp insertion of the 5' sequence of the intron 9, likely resulting in a frameshift effect. We consider that the clinical manifestations of this case represent a new type of LSS-related disease, namely congenital alopecia-cataract syndrome (CACS). Our data expand the phenotypic and genetic spectrum of LSS-related diseases.
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| http://dx.doi.org/10.1111/1346-8138.17514 | DOI Listing |
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