A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers-Danlos syndrome that proved to be a COL1-related overlap disorder

Malika Foy; Philippe De Mazancourt; Corinne Métay; Robert Carlier; Valérie Allamand; Corine Gartioux; Fabrice Gillas; Nawel Miri; Valérie Jobic; Ahmed Mekki; Pascale Richard; Caroline Michot; Karelle Benistan

doi:10.1002/ccr3.4128

A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers-Danlos syndrome that proved to be a COL1-related overlap disorder

Malika Foy, Philippe De Mazancourt, Corinne Métay, Robert Carlier, Valérie Allamand, Corine Gartioux, Fabrice Gillas, Nawel Miri, Valérie Jobic, Ahmed Mekki, Pascale Richard, Caroline Michot, Karelle Benistan

Muscle Biology

Research output: Contribution to journal › Article › peer-review

Abstract

COL1-related overlap disorder is a condition, which is not yet considered as part of the 2017 EDS classification. However, it should be investigated as an alternative diagnosis for any patient with hypermobile EDS. This could allow providing appropriate genetic counseling.

Original language	English
Journal	Clinical Case Reports
Volume	9
Issue number	9
DOIs	https://doi.org/10.1002/ccr3.4128
Publication status	Published - 2021

Subject classification (UKÄ)

Dermatology and Venereal Diseases

Free keywords

COL1A1
connective tissue
Ehlers-Danlos Syndrome
hypermobile EDS
joint laxity

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10.1002/ccr3.4128Licence: CC BY-NC-ND

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Foy, M., De Mazancourt, P., Métay, C., Carlier, R., Allamand, V., Gartioux, C., Gillas, F., Miri, N., Jobic, V., Mekki, A., Richard, P., Michot, C., & Benistan, K. (2021). A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers-Danlos syndrome that proved to be a COL1-related overlap disorder. Clinical Case Reports, 9(9). https://doi.org/10.1002/ccr3.4128

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title = "A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers-Danlos syndrome that proved to be a COL1-related overlap disorder",

abstract = "COL1-related overlap disorder is a condition, which is not yet considered as part of the 2017 EDS classification. However, it should be investigated as an alternative diagnosis for any patient with hypermobile EDS. This could allow providing appropriate genetic counseling.",

keywords = "COL1A1, connective tissue, Ehlers-Danlos Syndrome, hypermobile EDS, joint laxity",

author = "Malika Foy and {De Mazancourt}, Philippe and Corinne M{\'e}tay and Robert Carlier and Val{\'e}rie Allamand and Corine Gartioux and Fabrice Gillas and Nawel Miri and Val{\'e}rie Jobic and Ahmed Mekki and Pascale Richard and Caroline Michot and Karelle Benistan",

year = "2021",

doi = "10.1002/ccr3.4128",

language = "English",

volume = "9",

journal = "Clinical Case Reports",

issn = "2050-0904",

publisher = "Wiley",

number = "9",

}

Foy, M, De Mazancourt, P, Métay, C, Carlier, R, Allamand, V, Gartioux, C, Gillas, F, Miri, N, Jobic, V, Mekki, A, Richard, P, Michot, C & Benistan, K 2021, 'A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers-Danlos syndrome that proved to be a COL1-related overlap disorder', Clinical Case Reports, vol. 9, no. 9. https://doi.org/10.1002/ccr3.4128

TY - JOUR

T1 - A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers-Danlos syndrome that proved to be a COL1-related overlap disorder

AU - Foy, Malika

AU - De Mazancourt, Philippe

AU - Métay, Corinne

AU - Carlier, Robert

AU - Allamand, Valérie

AU - Gartioux, Corine

AU - Gillas, Fabrice

AU - Miri, Nawel

AU - Jobic, Valérie

AU - Mekki, Ahmed

AU - Richard, Pascale

AU - Michot, Caroline

AU - Benistan, Karelle

PY - 2021

Y1 - 2021

N2 - COL1-related overlap disorder is a condition, which is not yet considered as part of the 2017 EDS classification. However, it should be investigated as an alternative diagnosis for any patient with hypermobile EDS. This could allow providing appropriate genetic counseling.

AB - COL1-related overlap disorder is a condition, which is not yet considered as part of the 2017 EDS classification. However, it should be investigated as an alternative diagnosis for any patient with hypermobile EDS. This could allow providing appropriate genetic counseling.

KW - COL1A1

KW - connective tissue

KW - Ehlers-Danlos Syndrome

KW - hypermobile EDS

KW - joint laxity

U2 - 10.1002/ccr3.4128

DO - 10.1002/ccr3.4128

M3 - Article

C2 - 34484741

AN - SCOPUS:85108788738

SN - 2050-0904

VL - 9

JO - Clinical Case Reports

JF - Clinical Case Reports

IS - 9

ER -

A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers-Danlos syndrome that proved to be a COL1-related overlap disorder

Abstract

Subject classification (UKÄ)

Free keywords

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