Two SMARCAD1 Variants Causing Basan Syndrome in a Canadian and a Dutch Family

Elhaji, Youssef; Henten, Tessa M.A. van; Ruivenkamp, Claudia; Nightingale, Mathew; Santen, Gijs W.E.; Vos, Lydia E.; Hull, Peter

doi:10.1016/j.xjidi.2021.100022

Cited by 2 publications

(4 citation statements)

References 19 publications

(63 reference statements)

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“…Basan syndrome (MIM129200) (Elhaji et al, 2021;Li et al, 2016;Marks et al, 2014;Nousbeck et al, 2011Nousbeck et al, , 2014. Both these disorders and HRZ have overlapping phenotypes such as absent fingerprints and hypohidrosis although without the cSCC risk seen in HRZ (Table 2).…”

Section: Discussionmentioning

confidence: 99%

“…The HRZ locus is also associated with two other haploinsufficient disorders: Adermatoglyphia (MIM136000) and Basan syndrome (MIM129200) (Elhaji et al, 2021; Li et al, 2016; Marks et al, 2014; Nousbeck et al, 2011, 2014). Both these disorders and HRZ have overlapping phenotypes such as absent fingerprints and hypohidrosis although without the cSCC risk seen in HRZ (Table 2).…”

Section: Discussionmentioning

confidence: 99%

“…Günther et al (2018) reported that pathogenic variants specifically located in the first exon‐intron boundary of the skin‐specific isoform of SMARCAD1 (SWI/SNF‐related, matrix‐associated actin‐dependent regulator of chromatin, subfamily a, containing DEAD/H box 1; NM_001254949) are a cause for HRZ in three families. This was of interest as the related genodermatoses, Adermatoglyphia (OMIM136000), and Basan syndrome (OMIM129200) are also driven by pathogenic variants at this precise locus (Elhaji et al, 2021; Li et al, 2016; Marks et al, 2014; Nousbeck et al, 2011, 2014; Valentin et al, 2018).…”

Section: Introductionmentioning

confidence: 99%

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Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome

Loh

Špoljar

Neo

et al. 2022

American J of Med Genetics Pt A

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Huriez syndrome (HRZ, OMIM181600) is a rare genodermatosis characterized by scleroatrophic hands and feet, hypoplastic nails, palmoplantar keratoderma, and predisposition to cutaneous squamous cell carcinoma (cSCC). We report herein three HRZ families from Croatia, the Netherlands, and Germany. 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 germline mutations were identified which are predicted to disrupt the first exon-intron boundary of the skin-specific SMARCAD1 isoform. On the basis of phenotypic and genotypic convergence with Adermatoglyphia (OMIM136000) and Basan syndrome (OMIM129200), our results lend credence to the notion that these three Mendelian disorders are allelic. We propose adding Huriez syndrome to the previously suggested SMARCAD syndrome designation, which was originally invoked to describe the spectrum of monogenic disorders between Adermatoglyphia and Basan syndrome.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome

Loh

Špoljar

Neo

et al. 2022

American J of Med Genetics Pt A

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“…A skin-specific SMARCAD isoform regulates dermatoglyphic development ( Nousbeck et al, 2011 ). Recently, two patients with SMARCAD1 variants showed symptoms of Basan Syndrome characterized by absent or reduced sweating, congenital adermatoglyphia, neonatal acral bullae, and transient congenital facial milia ( Elhaji et al, 2021 ).…”

Section: Human Diseases Associated With Hereditary Mutations In Dna H...mentioning

confidence: 99%

Mammalian Resilience Revealed by a Comparison of Human Diseases and Mouse Models Associated With DNA Helicase Deficiencies

Kohzaki

2022

Front. Mol. Biosci.

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Maintaining genomic integrity is critical for sustaining individual animals and passing on the genome to subsequent generations. Several enzymes, such as DNA helicases and DNA polymerases, are involved in maintaining genomic integrity by unwinding and synthesizing the genome, respectively. Indeed, several human diseases that arise caused by deficiencies in these enzymes have long been known. In this review, the author presents the DNA helicases associated with human diseases discovered to date using recent analyses, including exome sequences. Since several mouse models that reflect these human diseases have been developed and reported, this study also summarizes the current knowledge regarding the outcomes of DNA helicase deficiencies in humans and mice and discusses possible mechanisms by which DNA helicases maintain genomic integrity in mammals. It also highlights specific diseases that demonstrate mammalian resilience, in which, despite the presence of genomic instability, patients and mouse models have lifespans comparable to those of the general population if they do not develop cancers; finally, this study discusses future directions for therapeutic applications in humans that can be explored using these mouse models.

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Two SMARCAD1 Variants Causing Basan Syndrome in a Canadian and a Dutch Family

Cited by 2 publications

References 19 publications

Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome

Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome

Mammalian Resilience Revealed by a Comparison of Human Diseases and Mouse Models Associated With DNA Helicase Deficiencies

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