A novel pathogenic <i>CDH3</i> variant underlying heredity hypotrichosis simplex detected by whole-exome sequencing (WES)—a case report
<p dir="ltr">Heredity hypotrichosis simplex (HHS) is a rare nonsyndromic disease form of hypotrichosis simplex (HS) characterized by progressive hair follicle (HF) miniaturization. It is usually inherited in an autosomal dominant manner. The differential diagnosis of HHS and the trea...
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2022
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| _version_ | 1864513519693594624 |
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| author | Ayat Kadhi (18281710) |
| author2 | Lamiaa Hamie (18281713) Christel Tamer (18281716) Georges Nemer (295984) Mazen Kurban (122847) |
| author2_role | author author author author |
| author_facet | Ayat Kadhi (18281710) Lamiaa Hamie (18281713) Christel Tamer (18281716) Georges Nemer (295984) Mazen Kurban (122847) |
| author_role | author |
| dc.creator.none.fl_str_mv | Ayat Kadhi (18281710) Lamiaa Hamie (18281713) Christel Tamer (18281716) Georges Nemer (295984) Mazen Kurban (122847) |
| dc.date.none.fl_str_mv | 2022-08-01T00:00:00Z |
| dc.identifier.none.fl_str_mv | 10.1101/mcs.a006225 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/A_novel_pathogenic_i_CDH3_i_variant_underlying_heredity_hypotrichosis_simplex_detected_by_whole-exome_sequencing_WES_a_case_report/25516144 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Scalp alopecia Diffused hair loss Hair shaft thinning Nonsyndromic hypotrichosis Heredity hypotrichosis simplex (HHS) Autosomal recessive inheritance Corneodesmosin (CDSN) gene CDH3 gene Whole-exome sequencing (WES) |
| dc.title.none.fl_str_mv | A novel pathogenic <i>CDH3</i> variant underlying heredity hypotrichosis simplex detected by whole-exome sequencing (WES)—a case report |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <p dir="ltr">Heredity hypotrichosis simplex (HHS) is a rare nonsyndromic disease form of hypotrichosis simplex (HS) characterized by progressive hair follicle (HF) miniaturization. It is usually inherited in an autosomal dominant manner. The differential diagnosis of HHS and the treatments remain challenging despite recent advancement. In this report, we describe a 19-yr-old female affected with HHS alongside most of her family members. Whole-exome sequencing (WES) was performed for some of the family members to unravel the culprit gene involved in HHS phenotype and ascertain the dermatological examination that was done to classify the phenotypes of the disease. A novel pathogenic variant in the CDH3 gene (p.Ser223GlyfsTer4) was identified as a plausible disease-causing variant for HHS. This is the first report to associate CDH3 variants with a HHS phenotype without macular degeneration using WES. WES is an important tool for genotype–phenotype correlation, precision in diagnosis, and in-depth understanding of the disease mechanisms, leading to possible novel therapeutic targets treatment and better patient outcomes.</p><h2>Other Information</h2><p dir="ltr">Published in: Molecular Case Studies<br>License: <a href="https://creativecommons.org/licenses/by/4.0/" target="_blank">https://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1101/mcs.a006225" target="_blank">https://dx.doi.org/10.1101/mcs.a006225</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_042d5853e8bf83cf7e20ba50f1ae595f |
| identifier_str_mv | 10.1101/mcs.a006225 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/25516144 |
| publishDate | 2022 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | A novel pathogenic <i>CDH3</i> variant underlying heredity hypotrichosis simplex detected by whole-exome sequencing (WES)—a case reportAyat Kadhi (18281710)Lamiaa Hamie (18281713)Christel Tamer (18281716)Georges Nemer (295984)Mazen Kurban (122847)Biological sciencesGeneticsBiomedical and clinical sciencesClinical sciencesScalp alopeciaDiffused hair lossHair shaft thinningNonsyndromic hypotrichosisHeredity hypotrichosis simplex (HHS)Autosomal recessive inheritanceCorneodesmosin (CDSN) geneCDH3 geneWhole-exome sequencing (WES)<p dir="ltr">Heredity hypotrichosis simplex (HHS) is a rare nonsyndromic disease form of hypotrichosis simplex (HS) characterized by progressive hair follicle (HF) miniaturization. It is usually inherited in an autosomal dominant manner. The differential diagnosis of HHS and the treatments remain challenging despite recent advancement. In this report, we describe a 19-yr-old female affected with HHS alongside most of her family members. Whole-exome sequencing (WES) was performed for some of the family members to unravel the culprit gene involved in HHS phenotype and ascertain the dermatological examination that was done to classify the phenotypes of the disease. A novel pathogenic variant in the CDH3 gene (p.Ser223GlyfsTer4) was identified as a plausible disease-causing variant for HHS. This is the first report to associate CDH3 variants with a HHS phenotype without macular degeneration using WES. WES is an important tool for genotype–phenotype correlation, precision in diagnosis, and in-depth understanding of the disease mechanisms, leading to possible novel therapeutic targets treatment and better patient outcomes.</p><h2>Other Information</h2><p dir="ltr">Published in: Molecular Case Studies<br>License: <a href="https://creativecommons.org/licenses/by/4.0/" target="_blank">https://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1101/mcs.a006225" target="_blank">https://dx.doi.org/10.1101/mcs.a006225</a></p>2022-08-01T00:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1101/mcs.a006225https://figshare.com/articles/journal_contribution/A_novel_pathogenic_i_CDH3_i_variant_underlying_heredity_hypotrichosis_simplex_detected_by_whole-exome_sequencing_WES_a_case_report/25516144CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/255161442022-08-01T00:00:00Z |
| spellingShingle | A novel pathogenic <i>CDH3</i> variant underlying heredity hypotrichosis simplex detected by whole-exome sequencing (WES)—a case report Ayat Kadhi (18281710) Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Scalp alopecia Diffused hair loss Hair shaft thinning Nonsyndromic hypotrichosis Heredity hypotrichosis simplex (HHS) Autosomal recessive inheritance Corneodesmosin (CDSN) gene CDH3 gene Whole-exome sequencing (WES) |
| status_str | publishedVersion |
| title | A novel pathogenic <i>CDH3</i> variant underlying heredity hypotrichosis simplex detected by whole-exome sequencing (WES)—a case report |
| title_full | A novel pathogenic <i>CDH3</i> variant underlying heredity hypotrichosis simplex detected by whole-exome sequencing (WES)—a case report |
| title_fullStr | A novel pathogenic <i>CDH3</i> variant underlying heredity hypotrichosis simplex detected by whole-exome sequencing (WES)—a case report |
| title_full_unstemmed | A novel pathogenic <i>CDH3</i> variant underlying heredity hypotrichosis simplex detected by whole-exome sequencing (WES)—a case report |
| title_short | A novel pathogenic <i>CDH3</i> variant underlying heredity hypotrichosis simplex detected by whole-exome sequencing (WES)—a case report |
| title_sort | A novel pathogenic <i>CDH3</i> variant underlying heredity hypotrichosis simplex detected by whole-exome sequencing (WES)—a case report |
| topic | Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Scalp alopecia Diffused hair loss Hair shaft thinning Nonsyndromic hypotrichosis Heredity hypotrichosis simplex (HHS) Autosomal recessive inheritance Corneodesmosin (CDSN) gene CDH3 gene Whole-exome sequencing (WES) |