Identification of a recurrent mutation in the human hairless gene underlying atrichia with papular lesions
Massé, M. ; Martinez-Mir, A. ; Lam, H. ; Geraghty, M. T. ; Christiano, A. M.
Oxford, UK : Blackwell Science Ltd
Published 2005
Oxford, UK : Blackwell Science Ltd
Published 2005
| ISSN: |
1365-2230
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|---|---|
| Source: |
Blackwell Publishing Journal Backfiles 1879-2005
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| Topics: |
Medicine
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| Notes: |
Identification of mutations in the hairless (HR) gene in patients with atrichia with papular lesions (APL) has proven of critical importance, as it provides a basis for the differentiation between APL and alopecia universalis. The establishment of the diagnostic criteria for APL has triggered the identification of a large number of APL patients among those suspected to suffer from alopecia universalis. This advancement has resulted in the discovery of an increasing number of hairless mutations in both consanguineous and nonconsanguineous APL families. Here, we report the identification of a homozygous mutation, 3434delC, in an APL patient of Arab--Palestinian descent. The proband is a 23-year-old female with generalized scalp and body alopecia. To confirm the diagnosis of APL and to identify the specific mutation, we sequenced the hairless gene. Sequencing of all exons of the hairless gene revealed a homozygous frameshift mutation, 3434delC, in exon 18. Interestingly, the same mutation was previously identified in an Arab--Israeli family. Our data suggest that the 3434delC mutation most likely represents a founder mutation in this geographical region.
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| Type of Medium: |
Electronic Resource
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| URL: |
| _version_ | 1798290107088764930 |
|---|---|
| autor | Massé, M. Martinez-Mir, A. Lam, H. Geraghty, M. T. Christiano, A. M. |
| autorsonst | Geraghty, M. T. Christiano, A. M. |
| book_url | http://dx.doi.org/10.1111/j.1365-2230.2005.01762.x |
| datenlieferant | nat_lic_papers |
| hauptsatz | hsatz_simple |
| identnr | NLZ242584055 |
| insertion_date | 2012-04-27 |
| issn | 1365-2230 |
| journal_name | Clinical and experimental dermatology |
| materialart | 1 |
| notes | Identification of mutations in the hairless (HR) gene in patients with atrichia with papular lesions (APL) has proven of critical importance, as it provides a basis for the differentiation between APL and alopecia universalis. The establishment of the diagnostic criteria for APL has triggered the identification of a large number of APL patients among those suspected to suffer from alopecia universalis. This advancement has resulted in the discovery of an increasing number of hairless mutations in both consanguineous and nonconsanguineous APL families. Here, we report the identification of a homozygous mutation, 3434delC, in an APL patient of Arab--Palestinian descent. The proband is a 23-year-old female with generalized scalp and body alopecia. To confirm the diagnosis of APL and to identify the specific mutation, we sequenced the hairless gene. Sequencing of all exons of the hairless gene revealed a homozygous frameshift mutation, 3434delC, in exon 18. Interestingly, the same mutation was previously identified in an Arab--Israeli family. Our data suggest that the 3434delC mutation most likely represents a founder mutation in this geographical region. |
| package_name | Blackwell Publishing |
| publikationsjahr_anzeige | 2005 |
| publikationsjahr_facette | 2005 |
| publikationsjahr_intervall | 7994:2005-2009 |
| publikationsjahr_sort | 2005 |
| publikationsort | Oxford, UK |
| publisher | Blackwell Science Ltd |
| reference | 30 (2005), S. 0 |
| search_space | articles |
| shingle_author_1 | Massé, M. Martinez-Mir, A. Lam, H. Geraghty, M. T. Christiano, A. M. |
| shingle_author_2 | Massé, M. Martinez-Mir, A. Lam, H. Geraghty, M. T. Christiano, A. M. |
| shingle_author_3 | Massé, M. Martinez-Mir, A. Lam, H. Geraghty, M. T. Christiano, A. M. |
| shingle_author_4 | Massé, M. Martinez-Mir, A. Lam, H. Geraghty, M. T. Christiano, A. M. |
| shingle_catch_all_1 | Massé, M. Martinez-Mir, A. Lam, H. Geraghty, M. T. Christiano, A. M. Identification of a recurrent mutation in the human hairless gene underlying atrichia with papular lesions Blackwell Science Ltd Identification of mutations in the hairless (HR) gene in patients with atrichia with papular lesions (APL) has proven of critical importance, as it provides a basis for the differentiation between APL and alopecia universalis. The establishment of the diagnostic criteria for APL has triggered the identification of a large number of APL patients among those suspected to suffer from alopecia universalis. This advancement has resulted in the discovery of an increasing number of hairless mutations in both consanguineous and nonconsanguineous APL families. Here, we report the identification of a homozygous mutation, 3434delC, in an APL patient of Arab--Palestinian descent. The proband is a 23-year-old female with generalized scalp and body alopecia. To confirm the diagnosis of APL and to identify the specific mutation, we sequenced the hairless gene. Sequencing of all exons of the hairless gene revealed a homozygous frameshift mutation, 3434delC, in exon 18. Interestingly, the same mutation was previously identified in an Arab--Israeli family. Our data suggest that the 3434delC mutation most likely represents a founder mutation in this geographical region. 1365-2230 13652230 |
| shingle_catch_all_2 | Massé, M. Martinez-Mir, A. Lam, H. Geraghty, M. T. Christiano, A. M. Identification of a recurrent mutation in the human hairless gene underlying atrichia with papular lesions Blackwell Science Ltd Identification of mutations in the hairless (HR) gene in patients with atrichia with papular lesions (APL) has proven of critical importance, as it provides a basis for the differentiation between APL and alopecia universalis. The establishment of the diagnostic criteria for APL has triggered the identification of a large number of APL patients among those suspected to suffer from alopecia universalis. This advancement has resulted in the discovery of an increasing number of hairless mutations in both consanguineous and nonconsanguineous APL families. Here, we report the identification of a homozygous mutation, 3434delC, in an APL patient of Arab--Palestinian descent. The proband is a 23-year-old female with generalized scalp and body alopecia. To confirm the diagnosis of APL and to identify the specific mutation, we sequenced the hairless gene. Sequencing of all exons of the hairless gene revealed a homozygous frameshift mutation, 3434delC, in exon 18. Interestingly, the same mutation was previously identified in an Arab--Israeli family. Our data suggest that the 3434delC mutation most likely represents a founder mutation in this geographical region. 1365-2230 13652230 |
| shingle_catch_all_3 | Massé, M. Martinez-Mir, A. Lam, H. Geraghty, M. T. Christiano, A. M. Identification of a recurrent mutation in the human hairless gene underlying atrichia with papular lesions Blackwell Science Ltd Identification of mutations in the hairless (HR) gene in patients with atrichia with papular lesions (APL) has proven of critical importance, as it provides a basis for the differentiation between APL and alopecia universalis. The establishment of the diagnostic criteria for APL has triggered the identification of a large number of APL patients among those suspected to suffer from alopecia universalis. This advancement has resulted in the discovery of an increasing number of hairless mutations in both consanguineous and nonconsanguineous APL families. Here, we report the identification of a homozygous mutation, 3434delC, in an APL patient of Arab--Palestinian descent. The proband is a 23-year-old female with generalized scalp and body alopecia. To confirm the diagnosis of APL and to identify the specific mutation, we sequenced the hairless gene. Sequencing of all exons of the hairless gene revealed a homozygous frameshift mutation, 3434delC, in exon 18. Interestingly, the same mutation was previously identified in an Arab--Israeli family. Our data suggest that the 3434delC mutation most likely represents a founder mutation in this geographical region. 1365-2230 13652230 |
| shingle_catch_all_4 | Massé, M. Martinez-Mir, A. Lam, H. Geraghty, M. T. Christiano, A. M. Identification of a recurrent mutation in the human hairless gene underlying atrichia with papular lesions Blackwell Science Ltd Identification of mutations in the hairless (HR) gene in patients with atrichia with papular lesions (APL) has proven of critical importance, as it provides a basis for the differentiation between APL and alopecia universalis. The establishment of the diagnostic criteria for APL has triggered the identification of a large number of APL patients among those suspected to suffer from alopecia universalis. This advancement has resulted in the discovery of an increasing number of hairless mutations in both consanguineous and nonconsanguineous APL families. Here, we report the identification of a homozygous mutation, 3434delC, in an APL patient of Arab--Palestinian descent. The proband is a 23-year-old female with generalized scalp and body alopecia. To confirm the diagnosis of APL and to identify the specific mutation, we sequenced the hairless gene. Sequencing of all exons of the hairless gene revealed a homozygous frameshift mutation, 3434delC, in exon 18. Interestingly, the same mutation was previously identified in an Arab--Israeli family. Our data suggest that the 3434delC mutation most likely represents a founder mutation in this geographical region. 1365-2230 13652230 |
| shingle_title_1 | Identification of a recurrent mutation in the human hairless gene underlying atrichia with papular lesions |
| shingle_title_2 | Identification of a recurrent mutation in the human hairless gene underlying atrichia with papular lesions |
| shingle_title_3 | Identification of a recurrent mutation in the human hairless gene underlying atrichia with papular lesions |
| shingle_title_4 | Identification of a recurrent mutation in the human hairless gene underlying atrichia with papular lesions |
| sigel_instance_filter | dkfz geomar wilbert ipn albert |
| source_archive | Blackwell Publishing Journal Backfiles 1879-2005 |
| timestamp | 2024-05-06T08:11:27.615Z |
| titel | Identification of a recurrent mutation in the human hairless gene underlying atrichia with papular lesions |
| titel_suche | Identification of a recurrent mutation in the human hairless gene underlying atrichia with papular lesions |
| topic | WW-YZ |
| uid | nat_lic_papers_NLZ242584055 |