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Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome.
Loh AYT, Špoljar S, Neo GYW, Escande-Beillard N, Leushacke M, Luijten MNH, Venkatesh B, Bonnard C, van Steensel MAM, Hamm H, Carmichael A, Rajan N, Carney TJ, Reversade B. Loh AYT, et al. Am J Med Genet A. 2022 Jun;188(6):1752-1760. doi: 10.1002/ajmg.a.62703. Epub 2022 Feb 25. Am J Med Genet A. 2022. PMID: 35212137
Deep sequencing followed by Sanger validation, confirmed the presence of germline causative SMARCAD1 heterozygous pathogenic variants. All seven HRZ patients displayed hypohidrosis, adermatoglyphia, and one patient developed cSCC at 32 years of age. Two novel monoallelic g …
Deep sequencing followed by Sanger validation, confirmed the presence of germline causative SMARCAD1 heterozygous pathogenic variants. All s …
Capecitabine induced fingerprint loss: Case report and review of the literature.
Deneken-Hernandez Z, Cherem-Kibrit M, Gutiérrez-Andrade L, Rodríguez-Gutiérrez G, Colmenero-Mercado JO. Deneken-Hernandez Z, et al. J Oncol Pharm Pract. 2022 Mar;28(2):495-499. doi: 10.1177/10781552211045009. Epub 2021 Oct 5. J Oncol Pharm Pract. 2022. PMID: 34609922 Review.
INTRODUCTION: Adermatoglyphia is defined as the medical condition clinically diagnosed to those who have a congenital or acquired loss of the epidermal ridges on the fingertips, commonly known as fingerprints. ...A score of 9 on the Naranjo scale confirmed to be a c …
INTRODUCTION: Adermatoglyphia is defined as the medical condition clinically diagnosed to those who have a congenital or acquired los …
Individuals lacking ridge detail: A case study in adermatoglyphia.
Cook HI, Harrison K, James H. Cook HI, et al. J Forensic Sci. 2021 Jan;66(1):202-208. doi: 10.1111/1556-4029.14597. Epub 2020 Nov 2. J Forensic Sci. 2021. PMID: 33136290
Adermatoglyphia is a very rare autosomal-dominant condition that is genetically inherited and causes an individual to be born without conventional ridge detail on either their palmar or plantar surfaces (the fingers and palms of the hands and the toes and the soles of the …
Adermatoglyphia is a very rare autosomal-dominant condition that is genetically inherited and causes an individual to be born without …
Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome.
Li M, Wang J, Li Z, Zhang J, Ni C, Cheng R, Yao Z. Li M, et al. Eur J Hum Genet. 2016 Aug;24(9):1367-70. doi: 10.1038/ejhg.2016.15. Epub 2016 Mar 2. Eur J Hum Genet. 2016. PMID: 26932190 Free PMC article.
Genome-wide linkage analysis successfully mapped the candidate gene to 4p15.31-4p14 and 4q13.2-4q23. The maximal LOD score was 3.01. WGS in one patient identified a splice variant (c.378+1G>T) in the SMARCAD1 gene (NG_031945.1) that was confirmed by Sanger sequencing. . …
Genome-wide linkage analysis successfully mapped the candidate gene to 4p15.31-4p14 and 4q13.2-4q23. The maximal LOD score was 3.01. …
Mutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genes.
Nousbeck J, Sarig O, Magal L, Warshauer E, Burger B, Itin P, Sprecher E. Nousbeck J, et al. Br J Dermatol. 2014 Dec;171(6):1521-4. doi: 10.1111/bjd.13176. Epub 2014 Oct 26. Br J Dermatol. 2014. PMID: 24909267
BACKGROUND: Autosomal dominant adermatoglyphia (ADG) is characterized by lack of palmoplantar epidermal ridges. ...Surprisingly, all four ADG-causing mutations identified to date disrupt a single conserved donor splice site adjacent to the 3' end of a noncoding exon and ar …
BACKGROUND: Autosomal dominant adermatoglyphia (ADG) is characterized by lack of palmoplantar epidermal ridges. ...Surprisingly, all …
A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia.
Nousbeck J, Burger B, Fuchs-Telem D, Pavlovsky M, Fenig S, Sarig O, Itin P, Sprecher E. Nousbeck J, et al. Am J Hum Genet. 2011 Aug 12;89(2):302-7. doi: 10.1016/j.ajhg.2011.07.004. Epub 2011 Aug 4. Am J Hum Genet. 2011. PMID: 21820097 Free PMC article.
We investigated a large family affected with autosomal-dominant adermatoglyphia (absence of fingerprints) also known as the "immigration delay disease." ...Sequencing of all SMARCAD1 coding and noncoding exons revealed a heterozygous transversion predicted to disrup …
We investigated a large family affected with autosomal-dominant adermatoglyphia (absence of fingerprints) also known as the "immigrat …