LEOPARD syndrome with hypertrophic cardiomyopathy

Velayutham, Ramanathan; Ahmed, A Shaheer

doi:10.1093/qjmed/hcac277

Cited by 2 publications

(2 citation statements)

References 3 publications

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“…According to whether there are systemic damages outside the skin, it can be divided into GL and Leopard syndrome (LS). LS can affect various other organ systems, including the cardiovascular, respiratory, nervous, skeletal, and urinary reproductive systems [7] . There have been rare reports of LS combined with unilateral kidney dysplasia (no gene mutation detected) or renal malformations (PTPN11 gene mutation) cases [8] .…”

Section: Discussionmentioning

confidence: 99%

Uncovering a new SASH1 mutation associated with Generalized Lentiginosis and unilateral renal dysplasia: pedigree survey and literature review

Du,

Liang,

2024

Preprint

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A 19-year-old female patient exhibits widespread pigmentation patches and unilateral renal dysplasia, while other systems were unremarkable. The diagnosis was generalized lentiginosis and the right kidney is dysplastic and nonfunctional. Genetic screening unveiled two heterozygous missense alterations in the SASH1 gene: c.1029C > T(p.Thr343=) and c.1566C > A(p.Ser522Arg). Her parents, while carrying the c.1029C > T(p.Thr343=) mutation, have no similar lentiginous phenotype. According to the analysis of relevant literature, both mutation sites are unprecedented in medical literature, with the c.1566C > A(p.Ser522Arg) variation representing a novel occurrence within this lineage. This finding not only contributes to the expansion of the human gene mutation repository but also furnishes critical insights for the genetic counseling of the patient and her relatives. During these consultations, elucidating the characteristics and implications of these mutations is paramount for accurately gauging the patient's risk factors and informing future familial health decisions.

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Section: Discussionmentioning

confidence: 99%

Uncovering a new SASH1 mutation associated with Generalized Lentiginosis and unilateral renal dysplasia: pedigree survey and literature review

Du,

Liang,

2024

Preprint

View full text Add to dashboard Cite

show abstract

“…According to whether there are systemic damages outside the skin, it can be divided into GL and Leopard syndrome (LS). LS could affect various other organ systems, including the cardiovascular, respiratory, nervous, skeletal, and urinary reproductive systems [7] . There have been rare reports of LS combined with unilateral kidney dysplasia (no gene mutation detected) or renal malformations (PTPN11 gene mutation) cases [8] .…”

Section: Discussionmentioning

confidence: 99%

A novel double mutation of SASH1 associated with Generalized Lentiginosis and unilateral renal dysplasia: pedigree survey and literature review

Du,

Liang,

2024

Preprint

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A 19-year-old female patient, diagnosed with generalized lentiginosis and the right renal dysplasia, had all other systems found to be normal. Whole exome sequencing identified double heterozygous missense mutations, c.1029C > T and c.1566C > A, in the SASH1 gene. Her parents each carry a single-site mutation, c.1029C > T, and do not exhibit the similar lentiginous phenotype. According to the literature, both mutation sites are unprecedented, with the c.1566C > A variation representing a novel occurrence within this lineage. The primary pathogenic mutation was identified at c.1566C > A, while the evidence for the pathogenicity of c.1029C > T remains insufficient. There are currently no reported cases in the literature where this gene mutation has led to such symptoms. This finding not only contributes to the expansion of the human gene mutation repository but also provides crucial insights for the genetic counseling of the patient and her relatives. During these consultations, it is essential to elucidate the characteristics and implications of these mutations to accurately gauge the patient's risk factors and inform future familial health decisions.

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LEOPARD syndrome with hypertrophic cardiomyopathy

Cited by 2 publications

References 3 publications

Uncovering a new SASH1 mutation associated with Generalized Lentiginosis and unilateral renal dysplasia: pedigree survey and literature review

Uncovering a new SASH1 mutation associated with Generalized Lentiginosis and unilateral renal dysplasia: pedigree survey and literature review

A novel double mutation of SASH1 associated with Generalized Lentiginosis and unilateral renal dysplasia: pedigree survey and literature review

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