Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatoglyphs and Associated Features (Baird, 1964)

Chang, Xiao; Liu, Dong; Tian, Lifeng; Liu, Yichuan; March, Michael; Wang, Tiancheng; Hou, Cuiping; Pellegrino, Renata; Levy, Richard A.; Jen, Melinda; Soccio, Raymond E.; Sleiman, Patrick; Hákonarson, Hákon; Castelo‐Soccio, Leslie

doi:10.1016/j.jpeds.2017.11.011

Cited by 6 publications

(14 citation statements)

References 12 publications

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“…Although the loss of function affects both SMARCAD1 isoforms as well as the adjacent long noncoding RNA (LOC101929210), the variant resulted in the typical Basan phenotype with no additional manifestations or increased severity. A similar finding was reported by Chang et al (2018) where a large deletion involving both isoforms was associated with the typical Basan phenotype. Thus, unlike the skin-specific isoform, a single copy of SMARCAD1 full length appears to be sufficient for its respective function.…”

Section: Discussionsupporting

confidence: 86%

“…Variable features include palmoplantar keratoderma, syndactyly, clinodactyly, tapered fingers, hyperpigmented macules on the hands and feet, flexion contractures of the digits, nail dystrophy, and single transverse palmar crease ( Baird, 1964 ; Basan, 1965 ; Límová et al., 1993 ). Since first described by Baird in 1964, the condition has been reported in only 10 kindreds worldwide ( Table 1 ) ( Baird, 1964 ; Basan, 1965 ; Chang et al., 2018 ; Gagey-Caron et al., 2009 ; Li et al., 2016 ; Límová et al., 1993 ; Luna and Larralde, 2012 ; Marks et al., 2014 ; Reed and Schreiner, 1983 ; Valentin et al., 2018 ).…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2021

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Basan syndrome is an autosomal dominant genodermatosis characterized by congenital adermatoglyphia, transient congenital facial milia, neonatal acral bullae, and absent or reduced sweating. Basan syndrome is rare and has been reported in only 10 kindreds worldwide. It is caused by variants in the skin-specific isoform of SMARCAD1, which starts with an alternative exon 1. All reported variants, except for one large deletion, are point mutations within the donor splice site of the alternative exon 1. In this paper, we report two families with Basan syndrome and describe two SMARCAD1 variants. In one family, we have identified a complex structural variant (a deletion and a nontandem inverted duplication) using whole-genome optical mapping and wholegenome sequencing. Although this variant results in the removal of the first nine exons of SMARCAD1 and exon 1 of the skin-specific isoform, it manifested in the typical Basan phenotype. This suggests that unlike the skin-specific isoform, a single copy of full-length SMARCAD1 is sufficient for its respective function. In the second family, whole-exome sequencing revealed a deletion of 12 base pairs spanning the exon-intron junction of the alternative exon 1 of the skin-specific SMARCAD1 isoform. In conclusion, we report two additional families with Basan syndrome and describe two SMARCAD1 pathogenic variants.

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Section: Discussionsupporting

confidence: 86%

Section: Introductionmentioning

confidence: 99%

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

et al. 2021

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“…This pathogenic variant, which differs from previous splice‐site mutations reported, expands the SMARCAD1 allelic spectrum associated with HRZ. Recently, a pedigree with adermatoglyphia was reported in association with a large 116‐kb deletion that also includes the first exon of the skin isoform of SMARCAD1 8 supporting the pathogenicity of this variant in our HRZ pedigree. This 116‐kb deletion affects the short and long isoforms, as it includes the transcriptional start site of both isoforms.…”

Section: Figuresupporting

confidence: 75%

Huriez syndrome caused by a large deletion that abrogates the skin‐specific isoform of SMARCAD1

Loh

Muthiah

et al. 2021

Br J Dermatol

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“…Full‐length SMARCAD1 isoform is expressed ubiquitously; the short isoform has a unique 5’‐nontranslated exon (exon 1) and is mainly identifiable in skin fibroblasts. Mutations in the skin‐specific isoform of SMARCAD1 have been confirmed to be the cause of this syndrome in all reported cases 2‐5 . Autosomal dominant adermatoglyphia is also characterized by lack of dermatoglyphics and hypohidrosis.…”

Section: Figurementioning

confidence: 93%

“…Mutations in the skin-specific isoform of SMARCAD1 have been confirmed to be the cause of this syndrome in all reported cases. [2][3][4][5] Autosomal dominant adermatoglyphia is also characterized by lack of dermatoglyphics and hypohidrosis. SMARCAD1 mutations have been found in both syndromes and Valentin et al 4 propose the term SMARCAD syndrome to define a phenotypic spectrum of a monogenic syndrome that includes these entities.In conclusion, we present two cases of Basan syndrome presenting with extensive congenital milia.…”

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confidence: 99%

Ectodermal dysplasia with congenital adermatoglyphia (Basan syndrome): Report of two cases presenting with extensive congenital milia

Nieto‐Benito

Molina-López

Feito-Rodríguez

et al. 2021

Pediatric Dermatology

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Basan syndrome is a rare autosomal dominant genodermatosis, characterized by rapidly healing congenital acral bullae, congenital milia and adermatoglyphia (lack of finger and toeprints). This type of ectodermal dysplasia has been infrequently reported in the literature. A pathogenic mutation in the SMARCAD1 gene has been demonstrated to cause this rare disorder.Milia are common, small, keratin-containing cysts that can arise spontaneously or as a response to stimuli. A few congenital milia are | 531 Pediatric Dermatology NIETO-BENITO ET al. After three years of follow-up, both patients have had normal neurological development. The milia gradually disappeared during their first year of life. Primary congenital milia are considered a normal variant but, when many lesions are present, they can be the clue to a number of genodermatoses such as orodigitofacial type I, Bazex-Dupré-Christol, Rombo, Brooke-Spiegler, basal cell nevus syndrome, keratitis-ichthyosis-deafness (KID) and Basan syndrome. The latter is an autosomal-dominant ectodermal dysplasia with congenital adermatoglyphia, congenital milia, transient neonatal acral bullae and erosions, dysmorphic nails, single palmar crease, clinodactyly, brachydactyly, campodactyly, and syndactyly. 1,3 Flexion contractures, decreased palmoplantar sweating, and severe painful calluses have been described in older patients. Whole exome sequencing, genotyping, and Sanger sequencing can be used to identify mutations in the SMARCAD1 gene in patients and affected relatives. 2Full-length SMARCAD1 isoform is expressed ubiquitously; the short isoform has a unique 5'-nontranslated exon (exon 1) and is mainly identifiable in skin fibroblasts. Mutations in the skin-specific isoform of SMARCAD1 have been confirmed to be the cause of this syndrome in all reported cases. [2][3][4][5] Autosomal dominant adermatoglyphia is also characterized by lack of dermatoglyphics and hypohidrosis. SMARCAD1 mutations have been found in both syndromes and Valentin et al 4 propose the term SMARCAD syndrome to define a phenotypic spectrum of a monogenic syndrome that includes these entities.In conclusion, we present two cases of Basan syndrome presenting with extensive congenital milia. It is a rare autosomal dominant ectodermal dysplasia, reported in fewer than ten families in the literature, caused by pathogenic mutations in SMARCAD1.

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Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatoglyphs and Associated Features (Baird, 1964)

Cited by 6 publications

References 12 publications

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

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

Huriez syndrome caused by a large deletion that abrogates the skin‐specific isoform of SMARCAD1

Ectodermal dysplasia with congenital adermatoglyphia (Basan syndrome): Report of two cases presenting with extensive congenital milia

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