Palmoplantar Keratoderma and Erythrokeratoderma

Gene: SMARCAD1

Green List (high evidence)

Huriez syndrome (HRZ) is characterised by the triad of congenital scleroatrophy of the distal extremities, palmoplantar keratoderma, and hypoplastic nail changes. Development of aggressive squamous cell carcinoma in areas of affected skin is a distinctive feature of the syndrome (~15% of patients). Huriez syndrome, Basan syndrome, and adermatoglyphia are allelic disorders with variable expressivity.

Gunther et al. (2018) performed whole genome sequencing in 2 French families with HRZ, who had showed linkage to chromosome 4q23. They identified heterozygous mutations at splice donor consensus site of the alternative exon 1 of SMARCAD1 gene. Sanger sequencing of SMARCAD1 in a German family with HRZ revealed an 18bp deletion spanning the same splice site involved in the previous 2 mutations. The mutations segregated fully with disease in each family and were not found in 400 German controls or in public variant databases.

Created: 15 Sep 2021, 8:43 a.m. | Last Modified: 15 Sep 2021, 8:43 a.m.

Panel Version: 0.100

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Huriez syndrome, OMIM #181600

Publications

• PMID: 29409814

I don't know

Associated with Basan syndrome which can present with Palmoplantar Keratoderma although it is not a major feature.

Two families with Basan syndrome where some individuals have PPK are described in 26932190 and 24664640.

Amber in PanelApp GEL
Sources: Literature

Created: 12 Aug 2020, 8:57 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Basan syndrome (MIM#129200)

Publications

• 26932190
• 24664640

Variants in this GENE are reported as part of current diagnostic practice