Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin

Etgar Levy-Nissenbaum; Regina C. Betz; Moshe Frydman; Michel Simon; Hadas Lahat; Tengiz Bakhan; Boleslaw Goldman; Anette Bygum; Monika Pierick; Axel M. Hillmer; Nathalie Jonca; Jaime Toribio; Roland Kruse; Georg Dewald; Sven Cichon; Christian Kubisch; Marina Guerrin; Guy Serre; Markus M. Nöthen; Elon Pras

doi:10.1038/ng1163

Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin

Etgar Levy-Nissenbaum, Regina C. Betz, Moshe Frydman, Michel Simon, Hadas Lahat, Tengiz Bakhan, Boleslaw Goldman, Anette Bygum, Monika Pierick, Axel M. Hillmer, Nathalie Jonca, Jaime Toribio, Roland Kruse, Georg Dewald, Sven Cichon, Christian Kubisch, Marina Guerrin, Guy Serre, Markus M. Nöthen, Elon Pras^*

^*Corresponding author for this work

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

Abstract

We have identified nonsense mutations in the gene CDSN (encoding corneodesmosin) in three families suffering from hypotrichosis simplex of the scalp (HSS; OMIM 146520). CDSN, a glycoprotein expressed in the epidermis and inner root sheath (IRS) of hair follicles, is a keratinocyte adhesion molecule. Truncated CDSN aggregates were detected in the superficial dermis and at the periphery of hair follicles. Our findings suggest that CDSN is important in normal scalp hair physiology.

Original language	English
Pages (from-to)	151-153
Number of pages	3
Journal	Nature Genetics
Volume	34
Issue number	2
DOIs	https://doi.org/10.1038/ng1163
State	Published - 1 Jun 2003

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Levy-Nissenbaum, E., Betz, R. C., Frydman, M., Simon, M., Lahat, H., Bakhan, T., Goldman, B., Bygum, A., Pierick, M., Hillmer, A. M., Jonca, N., Toribio, J., Kruse, R., Dewald, G., Cichon, S., Kubisch, C., Guerrin, M., Serre, G., Nöthen, M. M., & Pras, E. (2003). Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. Nature Genetics, 34(2), 151-153. https://doi.org/10.1038/ng1163

@article{bbd68fee0da748218bd18bbc79744dd4,

title = "Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin",

abstract = "We have identified nonsense mutations in the gene CDSN (encoding corneodesmosin) in three families suffering from hypotrichosis simplex of the scalp (HSS; OMIM 146520). CDSN, a glycoprotein expressed in the epidermis and inner root sheath (IRS) of hair follicles, is a keratinocyte adhesion molecule. Truncated CDSN aggregates were detected in the superficial dermis and at the periphery of hair follicles. Our findings suggest that CDSN is important in normal scalp hair physiology.",

author = "Etgar Levy-Nissenbaum and Betz, {Regina C.} and Moshe Frydman and Michel Simon and Hadas Lahat and Tengiz Bakhan and Boleslaw Goldman and Anette Bygum and Monika Pierick and Hillmer, {Axel M.} and Nathalie Jonca and Jaime Toribio and Roland Kruse and Georg Dewald and Sven Cichon and Christian Kubisch and Marina Guerrin and Guy Serre and N{\"o}then, {Markus M.} and Elon Pras",

note = "Funding Information: We thank all the affected individuals and their families for participation in our study and A. Metzker, T. Olender, N. Avidan, E. Ben-Asher, D. Lancet, T. Thederahn, K. B. Avraham, F. Brandrup, P. Propping, A. I. Bernal, G. M. Kukuk, M.-F. Isa{\"i}a, M.-P. Henry and C. Pons for their assistance and helpful discussions. This work was done in partial fulfillment of the requirements for Ph.D. degree of E.L.-N. The work was supported in part by WELLA AG (E.P.), by grants from INSERM and from the University of Toulouse III (G.S.) and by a grant from the Deutsche Forschungsgemeinschaft research group {\textquoteleft}Keratinocytes—proliferation and differentiation in the epidermis{\textquoteright} (M.M.N.). R.C.B. was supported by a postdoctoral fellowship from the Deutsche Forschungsgemeinschaft and the Fund for Scientific Research-Flanders.",

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doi = "10.1038/ng1163",

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Levy-Nissenbaum, E, Betz, RC, Frydman, M, Simon, M, Lahat, H, Bakhan, T, Goldman, B, Bygum, A, Pierick, M, Hillmer, AM, Jonca, N, Toribio, J, Kruse, R, Dewald, G, Cichon, S, Kubisch, C, Guerrin, M, Serre, G, Nöthen, MM & Pras, E 2003, 'Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin', Nature Genetics, vol. 34, no. 2, pp. 151-153. https://doi.org/10.1038/ng1163

TY - JOUR

T1 - Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin

AU - Levy-Nissenbaum, Etgar

AU - Betz, Regina C.

AU - Frydman, Moshe

AU - Simon, Michel

AU - Lahat, Hadas

AU - Bakhan, Tengiz

AU - Goldman, Boleslaw

AU - Bygum, Anette

AU - Pierick, Monika

AU - Hillmer, Axel M.

AU - Jonca, Nathalie

AU - Toribio, Jaime

AU - Kruse, Roland

AU - Dewald, Georg

AU - Cichon, Sven

AU - Kubisch, Christian

AU - Guerrin, Marina

AU - Serre, Guy

AU - Nöthen, Markus M.

AU - Pras, Elon

N1 - Funding Information: We thank all the affected individuals and their families for participation in our study and A. Metzker, T. Olender, N. Avidan, E. Ben-Asher, D. Lancet, T. Thederahn, K. B. Avraham, F. Brandrup, P. Propping, A. I. Bernal, G. M. Kukuk, M.-F. Isaïa, M.-P. Henry and C. Pons for their assistance and helpful discussions. This work was done in partial fulfillment of the requirements for Ph.D. degree of E.L.-N. The work was supported in part by WELLA AG (E.P.), by grants from INSERM and from the University of Toulouse III (G.S.) and by a grant from the Deutsche Forschungsgemeinschaft research group ‘Keratinocytes—proliferation and differentiation in the epidermis’ (M.M.N.). R.C.B. was supported by a postdoctoral fellowship from the Deutsche Forschungsgemeinschaft and the Fund for Scientific Research-Flanders.

PY - 2003/6/1

Y1 - 2003/6/1

N2 - We have identified nonsense mutations in the gene CDSN (encoding corneodesmosin) in three families suffering from hypotrichosis simplex of the scalp (HSS; OMIM 146520). CDSN, a glycoprotein expressed in the epidermis and inner root sheath (IRS) of hair follicles, is a keratinocyte adhesion molecule. Truncated CDSN aggregates were detected in the superficial dermis and at the periphery of hair follicles. Our findings suggest that CDSN is important in normal scalp hair physiology.

AB - We have identified nonsense mutations in the gene CDSN (encoding corneodesmosin) in three families suffering from hypotrichosis simplex of the scalp (HSS; OMIM 146520). CDSN, a glycoprotein expressed in the epidermis and inner root sheath (IRS) of hair follicles, is a keratinocyte adhesion molecule. Truncated CDSN aggregates were detected in the superficial dermis and at the periphery of hair follicles. Our findings suggest that CDSN is important in normal scalp hair physiology.

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DO - 10.1038/ng1163

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AN - SCOPUS:0037941582

SN - 1061-4036

VL - 34

SP - 151

EP - 153

JO - Nature Genetics

JF - Nature Genetics

IS - 2

ER -

Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin

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