LIG Audit Status
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Batch audit-20260421-labels-seed42 · created 2026-04-21 07:03 · seed 42
caucasian
25 reviewed / 25 total
0 pending
Confirmed caucasian 25 · Not caucasian on review 0
white
25 reviewed / 25 total
0 pending
Confirmed white 24 · Not white on review 1
european
10 reviewed / 25 total
15 pending
Confirmed european 10 · Not european on review 0
other
25 reviewed / 25 total
0 pending
Confirmed other 25 · Not other on review 0
none of these labels
0 reviewed / 100 total
100 pending
Confirmed none of these labels 0 · Uses tracked labels on review 0
["Next‐generation sequencing through multi‐gene panel testing for diagnosis of hereditary ichthyosis in Chinese"]
Clinical Genetics · 2020 · article 48816578 · 10.1111/cge.13704
Review target: other. Review status: reviewed
Audit result: confirmed other · reviewer georgina · 2026-05-26 21:42
Classifier flags: other: Chinese
<jats:title>Abstract</jats:title><jats:p>Inherited ichthyoses are a heterogeneous group of rare disorders related to over 40 genes. To identify underlying molecular causes in inherited ichthyosis among Chinese and to correlate genotype and phenotype, 35 probands clinically diagnosed inherited ichthyosis, except ichthyosis vulgaris and X‐linked ichthyosis, were included in our study. Molecular analysis was performed using next‐generation sequencing (NGS) through multi‐gene panel testing targeting all ichthyosis‐related genes. Genetic variants causative for the ichthyosis were identified in 32 of 35 investigated patients. In all, 43 causative mutations across 12 genes were disclosed, including 16 novel variants. Thirteen keratinopathic ichthyosis, fourteen autosomal recessive congenital ichthyosis (ARCI) including one caused by mutations in <jats:italic>SDR9C7</jats:italic>, and five syndromic ichthyoses were confirmed. Four probands, with presumptive ARCI, turned out to be keratinopathic ichthyosis (2), neutral lipid storage disease (1), and Sjogren‐Larsson syndrome (1), respectively. Next‐generation technology has been demonstrated to be an effective tool in diagnosing inherited ichthyosis constituting a diverse group of cornification disorders. Our study further expands mutation spectrum and clinical phenotype associated with inherited ichthyosis in Chinese.</jats:p>