Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis

Gina M. DeStefano; Katherine A. Fantauzzo; Lynn Petukhova; Mazen Kurban; Marija Tadin-Strapps; Brynn Levy; Dorothy Warburton; Elizabeth T. Cirulli; Yujun Han; Xiaoyun Sun; Yufeng Shen; Maryam Shirazi; Vaidehi Jobanputra; Rodrigo Cepeda-Valdes; Julio Cesar Salas-Alanis; Angela M. Christiano

doi:10.1073/pnas.1216412110

Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis

Gina M. DeStefano, Katherine A. Fantauzzo, Lynn Petukhova, Mazen Kurban, Marija Tadin-Strapps, Brynn Levy, Dorothy Warburton, Elizabeth T. Cirulli, Yujun Han, Xiaoyun Sun, Yufeng Shen, Maryam Shirazi, Vaidehi Jobanputra, Rodrigo Cepeda-Valdes, Julio Cesar Salas-Alanis, Angela M. Christiano^*

^*Corresponding author for this work

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

40 Scopus citations

Abstract

X-linked congenital generalized hypertrichosis (Online Mendelian Inheritance in Man 307150) is an extremely rare condition of hair overgrowth on different body sites. We previously reported linkage in a large Mexican family with X-linked congenital generalized hypertrichosis cosegregating with deafness and with dental and palate anomalies to Xq24-27. Using SNP oligonucleotide microarray analysis and whole-genome sequencing, we identified a 389- kb interchromosomal insertion at an extragenic palindrome site at Xq27.1 that completely cosegregates with the disease. Among the genes surrounding the insertion, we found that Fibroblast Growth Factor 13 (FGF13) mRNA levels were significantly reduced in affected individuals, and immunofluorescence staining revealed a striking decrease in FGF13 localization throughout the outer root sheath of affected hair follicles. Taken together, our findings suggest a role for FGF13 in hair follicle growth and in the hair cycle.

Original language	English (US)
Pages (from-to)	7790-7795
Number of pages	6
Journal	Proceedings of the National Academy of Sciences of the United States of America
Volume	110
Issue number	19
DOIs	https://doi.org/10.1073/pnas.1216412110
State	Published - May 7 2013
Externally published	Yes

Keywords

Congenital hypertrichosis
Excessive hair growth

ASJC Scopus subject areas

General

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10.1073/pnas.1216412110

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DeStefano, G. M., Fantauzzo, K. A., Petukhova, L., Kurban, M., Tadin-Strapps, M., Levy, B., Warburton, D., Cirulli, E. T., Han, Y., Sun, X., Shen, Y., Shirazi, M., Jobanputra, V., Cepeda-Valdes, R., Salas-Alanis, J. C., & Christiano, A. M. (2013). Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis. Proceedings of the National Academy of Sciences of the United States of America, 110(19), 7790-7795. https://doi.org/10.1073/pnas.1216412110

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title = "Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis",

abstract = "X-linked congenital generalized hypertrichosis (Online Mendelian Inheritance in Man 307150) is an extremely rare condition of hair overgrowth on different body sites. We previously reported linkage in a large Mexican family with X-linked congenital generalized hypertrichosis cosegregating with deafness and with dental and palate anomalies to Xq24-27. Using SNP oligonucleotide microarray analysis and whole-genome sequencing, we identified a 389- kb interchromosomal insertion at an extragenic palindrome site at Xq27.1 that completely cosegregates with the disease. Among the genes surrounding the insertion, we found that Fibroblast Growth Factor 13 (FGF13) mRNA levels were significantly reduced in affected individuals, and immunofluorescence staining revealed a striking decrease in FGF13 localization throughout the outer root sheath of affected hair follicles. Taken together, our findings suggest a role for FGF13 in hair follicle growth and in the hair cycle.",

keywords = "Congenital hypertrichosis, Excessive hair growth",

author = "DeStefano, {Gina M.} and Fantauzzo, {Katherine A.} and Lynn Petukhova and Mazen Kurban and Marija Tadin-Strapps and Brynn Levy and Dorothy Warburton and Cirulli, {Elizabeth T.} and Yujun Han and Xiaoyun Sun and Yufeng Shen and Maryam Shirazi and Vaidehi Jobanputra and Rodrigo Cepeda-Valdes and Salas-Alanis, {Julio Cesar} and Christiano, {Angela M.}",

year = "2013",

month = may,

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doi = "10.1073/pnas.1216412110",

language = "English (US)",

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DeStefano, GM, Fantauzzo, KA, Petukhova, L, Kurban, M, Tadin-Strapps, M, Levy, B, Warburton, D, Cirulli, ET, Han, Y, Sun, X, Shen, Y, Shirazi, M, Jobanputra, V, Cepeda-Valdes, R, Salas-Alanis, JC & Christiano, AM 2013, 'Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis', Proceedings of the National Academy of Sciences of the United States of America, vol. 110, no. 19, pp. 7790-7795. https://doi.org/10.1073/pnas.1216412110

TY - JOUR

T1 - Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis

AU - DeStefano, Gina M.

AU - Fantauzzo, Katherine A.

AU - Petukhova, Lynn

AU - Kurban, Mazen

AU - Tadin-Strapps, Marija

AU - Levy, Brynn

AU - Warburton, Dorothy

AU - Cirulli, Elizabeth T.

AU - Han, Yujun

AU - Sun, Xiaoyun

AU - Shen, Yufeng

AU - Shirazi, Maryam

AU - Jobanputra, Vaidehi

AU - Cepeda-Valdes, Rodrigo

AU - Salas-Alanis, Julio Cesar

AU - Christiano, Angela M.

PY - 2013/5/7

Y1 - 2013/5/7

N2 - X-linked congenital generalized hypertrichosis (Online Mendelian Inheritance in Man 307150) is an extremely rare condition of hair overgrowth on different body sites. We previously reported linkage in a large Mexican family with X-linked congenital generalized hypertrichosis cosegregating with deafness and with dental and palate anomalies to Xq24-27. Using SNP oligonucleotide microarray analysis and whole-genome sequencing, we identified a 389- kb interchromosomal insertion at an extragenic palindrome site at Xq27.1 that completely cosegregates with the disease. Among the genes surrounding the insertion, we found that Fibroblast Growth Factor 13 (FGF13) mRNA levels were significantly reduced in affected individuals, and immunofluorescence staining revealed a striking decrease in FGF13 localization throughout the outer root sheath of affected hair follicles. Taken together, our findings suggest a role for FGF13 in hair follicle growth and in the hair cycle.

AB - X-linked congenital generalized hypertrichosis (Online Mendelian Inheritance in Man 307150) is an extremely rare condition of hair overgrowth on different body sites. We previously reported linkage in a large Mexican family with X-linked congenital generalized hypertrichosis cosegregating with deafness and with dental and palate anomalies to Xq24-27. Using SNP oligonucleotide microarray analysis and whole-genome sequencing, we identified a 389- kb interchromosomal insertion at an extragenic palindrome site at Xq27.1 that completely cosegregates with the disease. Among the genes surrounding the insertion, we found that Fibroblast Growth Factor 13 (FGF13) mRNA levels were significantly reduced in affected individuals, and immunofluorescence staining revealed a striking decrease in FGF13 localization throughout the outer root sheath of affected hair follicles. Taken together, our findings suggest a role for FGF13 in hair follicle growth and in the hair cycle.

KW - Congenital hypertrichosis

KW - Excessive hair growth

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Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis

Abstract

Keywords

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