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

Research output: Contribution to journalArticle

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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 languageEnglish
Pages (from-to)7790-7795
Number of pages6
JournalProceedings of the National Academy of Sciences of the United States of America
DOIs
Publication statusPublished - 7 May 2013

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Hair Follicle
Genetic Databases
Palate
Insertional Mutagenesis
Deafness
Microarray Analysis
Oligonucleotide Array Sequence Analysis
Single Nucleotide Polymorphism
Fluorescent Antibody Technique
Tooth
Genome
Staining and Labeling
Messenger RNA
Growth
Hypertrichosis congenital generalized X-linked
fibroblast growth factor 13

All Science Journal Classification (ASJC) codes

  • General

Cite this

DeStefano, G. M., Fantauzzo, K. A., Petukhova, L., Kurban, M., Tadin-Strapps, M., Levy, B., ... 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, 7790-7795. https://doi.org/10.1073/pnas.1216412110
DeStefano, Gina M. ; Fantauzzo, Katherine A. ; Petukhova, Lynn ; Kurban, Mazen ; Tadin-Strapps, Marija ; Levy, Brynn ; Warburton, Dorothy ; Cirulli, Elizabeth T. ; Han, Yujun ; Sun, Xiaoyun ; Shen, Yufeng ; Shirazi, Maryam ; Jobanputra, Vaidehi ; Cepeda-Valdes, Rodrigo ; Salas-Alanis, Julio Cesar ; Christiano, Angela M. / Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis. In: Proceedings of the National Academy of Sciences of the United States of America. 2013 ; pp. 7790-7795.
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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.",
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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, pp. 7790-7795. https://doi.org/10.1073/pnas.1216412110

Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis. / DeStefano, Gina M.; Fantauzzo, Katherine A.; Petukhova, Lynn; Kurban, Mazen; Tadin-Strapps, Marija; Levy, Brynn; Warburton, Dorothy; Cirulli, Elizabeth T.; Han, Yujun; Sun, Xiaoyun; Shen, Yufeng; Shirazi, Maryam; Jobanputra, Vaidehi; Cepeda-Valdes, Rodrigo; Salas-Alanis, Julio Cesar; Christiano, Angela M.

In: Proceedings of the National Academy of Sciences of the United States of America, 07.05.2013, p. 7790-7795.

Research output: Contribution to journalArticle

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.

U2 - 10.1073/pnas.1216412110

DO - 10.1073/pnas.1216412110

M3 - Article

SP - 7790

EP - 7795

JO - Proceedings of the National Academy of Sciences of the United States of America

JF - Proceedings of the National Academy of Sciences of the United States of America

SN - 0027-8424

ER -