Mutation spectrum in the ABCC6 gene and genotype–phenotype correlations in a French cohort with pseudoxanthoma elasticum

Legrand, Anne; Cornez, Laurence; Samkari, Wafa; Mazzella, Jean‐Michaël; Vénisse, Annabelle; Boccio, Valérie; Auribault, Karine; Keren, Boris; Bénistan, Karelle; Germain, Dominique P.; Frank, Michael; Jeunemaı̂tre, Xavier; Albuisson, Juliette

doi:10.1038/gim.2016.213

Cited by 67 publications

(90 citation statements)

References 33 publications

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“…The SNV c.3421 C > T, p.(Arg1141-Ter) is found with a prevalence of 25% in various ethnic backgrounds, and a large deletion of >16 kb encompassing exons 23-29 (c.2996-1724_4209-478del, also called "del23-29") has a prevalence of 28% in Americans of European descent [2] and 11% in Caucasians [1]. Few other variants are found with a low level of recurrence.…”

Section: Mutational Spectrummentioning

confidence: 99%

“…Causative variants are distributed throughout the gene, but two intracellular domains are significantly enriched with missense variants: the eighth intracellular loop and the nucleotide binding fold [1].…”

Section: Mutational Spectrummentioning

confidence: 99%

“…Asymptomatic parents are expected to have transmitted one pathogenic variant each, and their screening is not relevant. Few cases of pseudodominant transmission have been described and were proven to occur in families where three mutations co-segregate [1,13]. In these latter cases, the parents are tested to properly define inheritance of the variants.…”

Section: Yesmentioning

confidence: 99%

“…A series published in 2017 raises clinical sensitivity to 82% for all clinical PXE cases and points out that only one pathogenic variant is identified in some cases with uncomplete or atypical phenotype (harboring only skin or ocular manifestations) [1].…”

Section: Clinical Sensitivity (Proportion Of Positive Tests If the DImentioning

confidence: 99%

“…More than 300 distinct pathogenic variants have been reported in the ABCC6 gene [1]. Most of these variants are gathered in the public ABCC6 variants database (https://data bases.lovd.nl/shared/genes/ABCC6).…”

Section: Mutational Spectrummentioning

confidence: 99%

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Clinical utility gene card: for pseudoxanthoma elasticum

et al. 2018

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Section: Mutational Spectrummentioning

confidence: 99%

Section: Mutational Spectrummentioning

confidence: 99%

Section: Yesmentioning

confidence: 99%

Section: Clinical Sensitivity (Proportion Of Positive Tests If the DImentioning

confidence: 99%

Section: Mutational Spectrummentioning

confidence: 99%

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Clinical utility gene card: for pseudoxanthoma elasticum

et al. 2018

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From membrane to mineralization: the curious case of the ABCC6 transporter

et al. 2020

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ATP‐binding cassette subfamily C member 6 gene/protein (ABCC6) is an ATP‐dependent transmembrane transporter predominantly expressed in the liver and the kidney. ABCC6 first came to attention in human medicine when it was discovered in 2000 that mutations in its encoding gene, ABCC6, caused the autosomal recessive multisystemic mineralization disease pseudoxanthoma elasticum (PXE). Since then, the physiological and pathological roles of ABCC6 have been the subject of intense research. In the last 20 years, significant findings have clarified ABCC6 structure as well as its physiological role in mineralization homeostasis in humans and animal models. Yet, several facets of ABCC6 biology remain currently incompletely understood, ranging from the precise nature of its substrate(s) to the increasingly complex molecular genetics. Nonetheless, advances in our understanding of pathophysiological mechanisms causing mineralization lead to several treatment options being suggested or already tested in pilot clinical trials for ABCC6 deficiency. This review highlights current knowledge of ABCC6 and the challenges ahead, particularly the attempts to translate basic science into clinical practice.

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Genetic Disorders of Collagen, Elastin and Dermal Matrix

Burrows

2024

Rook's Textbook of Dermatology

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The inherited disorders of connective tissue are a heterogeneous group of conditions characterised by defects involving primarily one element of the connective tissue: collagen, elastic fibre or other extracellular matrix proteins. Multisystem involvement is common and can be fatal. There is variable skin involvement but recognition of characteristic skin findings may provide an early diagnosis and identify those at risk of internal complications. This chapter covers the inherited disorders of collagen and elastic fibres, infantile stiff skin and premature ageing syndromes, disorders of ectopic elastic calcification, ossification, as well as syndromes related to abnormal connective tissue.

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Mutation spectrum in the ABCC6 gene and genotype–phenotype correlations in a French cohort with pseudoxanthoma elasticum

Abstract: We propose an updated PS including renal and neurological features and adaptation of follow-up according to the genetic and ethnic status of PXE-affected patients.Genet Med advance online publication 19 January 2017.

Cited by 67 publications

References 33 publications

Clinical utility gene card: for pseudoxanthoma elasticum

Clinical utility gene card: for pseudoxanthoma elasticum

From membrane to mineralization: the curious case of the ABCC6 transporter

Genetic Disorders of Collagen, Elastin and Dermal Matrix

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