A novel heterozygous frameshift mutation in the KRT6A gene responsible for an uncommon phenotype of pachyonychia congenita: One case report and review of literature
Pachyonychia congenita is an uncommon autosomal dominant skin disorder characterized by hypertrophic nail dystrophy, palmoplantar keratoderma, oral leukokeratosis, and cutaneous cysts. And fissured tongue is rarely reported in patients with pachyonychia congenita. The disease is primarily associated...
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2024-03-01
|
| Series: | Heliyon |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2405844024032262 |
| _version_ | 1797259693546012672 |
|---|---|
| author | Jiali Liang Ronghua Li Chenmei Liu Yan Cai Yifei Liu Pingjiao Chen Kang Zeng Changxing Li |
| author_facet | Jiali Liang Ronghua Li Chenmei Liu Yan Cai Yifei Liu Pingjiao Chen Kang Zeng Changxing Li |
| author_sort | Jiali Liang |
| collection | DOAJ |
| description | Pachyonychia congenita is an uncommon autosomal dominant skin disorder characterized by hypertrophic nail dystrophy, palmoplantar keratoderma, oral leukokeratosis, and cutaneous cysts. And fissured tongue is rarely reported in patients with pachyonychia congenita. The disease is primarily associated with mutations in five keratin genes, namely KRT6A, KRT6B, KRT6C, KRT16 or KRT17. Herein we report a 9-year-old Chinese girl who has thickened nails, keratinized plaques, and fissured tongue since birth. To investigate the underlying genetic cause, whole-exome sequencing and Sanger sequencing were performed in this patient and her family members. We identified a candidate variant c.1460–2_1460del (p.S487Lfs*21) in the KRT6A gene (NM_005554.4) by whole-exome sequencing. Sanger sequencing revealed the absence of the mutation in both parents, indicating that it is a de novo variant. Thus, the novel heterozygous frameshift mutation c.1460–2_1460del (p.S487Lfs*21) within exon 9 of KRT6A was identified as the genetic cause of the patient. Our study identified a rare de novo heterozygous frameshift mutation in the KRT6A gene in a patient with pachyonychia congenita presenting fissured tongue. Our findings expand the KRT6A gene mutation spectrum of Pachyonychia congenita, and will contribute to the future genetic counseling and gene therapy for this disease. |
| first_indexed | 2024-03-07T14:28:31Z |
| format | Article |
| id | doaj.art-32125061862d4efdb58296323a9e6f09 |
| institution | Directory Open Access Journal |
| issn | 2405-8440 |
| language | English |
| last_indexed | 2024-04-24T23:13:29Z |
| publishDate | 2024-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Heliyon |
| spelling | doaj.art-32125061862d4efdb58296323a9e6f092024-03-17T07:57:37ZengElsevierHeliyon2405-84402024-03-01105e27195A novel heterozygous frameshift mutation in the KRT6A gene responsible for an uncommon phenotype of pachyonychia congenita: One case report and review of literatureJiali Liang0Ronghua Li1Chenmei Liu2Yan Cai3Yifei Liu4Pingjiao Chen5Kang Zeng6Changxing Li7Department of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong Province, 510515, ChinaDepartment of Dermatology, Quanzhou First Hospital Affiliated to Fujian Medical University, Quanzhou, 362002, ChinaDepartment of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong Province, 510515, ChinaDepartment of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong Province, 510515, ChinaDepartment of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong Province, 510515, ChinaDepartment of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong Province, 510515, ChinaDepartment of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong Province, 510515, China; Corresponding author. Department of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong Province, 510515, China.Department of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong Province, 510515, China; Corresponding author.Pachyonychia congenita is an uncommon autosomal dominant skin disorder characterized by hypertrophic nail dystrophy, palmoplantar keratoderma, oral leukokeratosis, and cutaneous cysts. And fissured tongue is rarely reported in patients with pachyonychia congenita. The disease is primarily associated with mutations in five keratin genes, namely KRT6A, KRT6B, KRT6C, KRT16 or KRT17. Herein we report a 9-year-old Chinese girl who has thickened nails, keratinized plaques, and fissured tongue since birth. To investigate the underlying genetic cause, whole-exome sequencing and Sanger sequencing were performed in this patient and her family members. We identified a candidate variant c.1460–2_1460del (p.S487Lfs*21) in the KRT6A gene (NM_005554.4) by whole-exome sequencing. Sanger sequencing revealed the absence of the mutation in both parents, indicating that it is a de novo variant. Thus, the novel heterozygous frameshift mutation c.1460–2_1460del (p.S487Lfs*21) within exon 9 of KRT6A was identified as the genetic cause of the patient. Our study identified a rare de novo heterozygous frameshift mutation in the KRT6A gene in a patient with pachyonychia congenita presenting fissured tongue. Our findings expand the KRT6A gene mutation spectrum of Pachyonychia congenita, and will contribute to the future genetic counseling and gene therapy for this disease.http://www.sciencedirect.com/science/article/pii/S2405844024032262Pachyonychia congenitaFissured tongueKeratinKRT6AGenodermatosis |
| spellingShingle | Jiali Liang Ronghua Li Chenmei Liu Yan Cai Yifei Liu Pingjiao Chen Kang Zeng Changxing Li A novel heterozygous frameshift mutation in the KRT6A gene responsible for an uncommon phenotype of pachyonychia congenita: One case report and review of literature Heliyon Pachyonychia congenita Fissured tongue Keratin KRT6A Genodermatosis |
| title | A novel heterozygous frameshift mutation in the KRT6A gene responsible for an uncommon phenotype of pachyonychia congenita: One case report and review of literature |
| title_full | A novel heterozygous frameshift mutation in the KRT6A gene responsible for an uncommon phenotype of pachyonychia congenita: One case report and review of literature |
| title_fullStr | A novel heterozygous frameshift mutation in the KRT6A gene responsible for an uncommon phenotype of pachyonychia congenita: One case report and review of literature |
| title_full_unstemmed | A novel heterozygous frameshift mutation in the KRT6A gene responsible for an uncommon phenotype of pachyonychia congenita: One case report and review of literature |
| title_short | A novel heterozygous frameshift mutation in the KRT6A gene responsible for an uncommon phenotype of pachyonychia congenita: One case report and review of literature |
| title_sort | novel heterozygous frameshift mutation in the krt6a gene responsible for an uncommon phenotype of pachyonychia congenita one case report and review of literature |
| topic | Pachyonychia congenita Fissured tongue Keratin KRT6A Genodermatosis |
| url | http://www.sciencedirect.com/science/article/pii/S2405844024032262 |
| work_keys_str_mv | AT jialiliang anovelheterozygousframeshiftmutationinthekrt6ageneresponsibleforanuncommonphenotypeofpachyonychiacongenitaonecasereportandreviewofliterature AT ronghuali anovelheterozygousframeshiftmutationinthekrt6ageneresponsibleforanuncommonphenotypeofpachyonychiacongenitaonecasereportandreviewofliterature AT chenmeiliu anovelheterozygousframeshiftmutationinthekrt6ageneresponsibleforanuncommonphenotypeofpachyonychiacongenitaonecasereportandreviewofliterature AT yancai anovelheterozygousframeshiftmutationinthekrt6ageneresponsibleforanuncommonphenotypeofpachyonychiacongenitaonecasereportandreviewofliterature AT yifeiliu anovelheterozygousframeshiftmutationinthekrt6ageneresponsibleforanuncommonphenotypeofpachyonychiacongenitaonecasereportandreviewofliterature AT pingjiaochen anovelheterozygousframeshiftmutationinthekrt6ageneresponsibleforanuncommonphenotypeofpachyonychiacongenitaonecasereportandreviewofliterature AT kangzeng anovelheterozygousframeshiftmutationinthekrt6ageneresponsibleforanuncommonphenotypeofpachyonychiacongenitaonecasereportandreviewofliterature AT changxingli anovelheterozygousframeshiftmutationinthekrt6ageneresponsibleforanuncommonphenotypeofpachyonychiacongenitaonecasereportandreviewofliterature AT jialiliang novelheterozygousframeshiftmutationinthekrt6ageneresponsibleforanuncommonphenotypeofpachyonychiacongenitaonecasereportandreviewofliterature AT ronghuali novelheterozygousframeshiftmutationinthekrt6ageneresponsibleforanuncommonphenotypeofpachyonychiacongenitaonecasereportandreviewofliterature AT chenmeiliu novelheterozygousframeshiftmutationinthekrt6ageneresponsibleforanuncommonphenotypeofpachyonychiacongenitaonecasereportandreviewofliterature AT yancai novelheterozygousframeshiftmutationinthekrt6ageneresponsibleforanuncommonphenotypeofpachyonychiacongenitaonecasereportandreviewofliterature AT yifeiliu novelheterozygousframeshiftmutationinthekrt6ageneresponsibleforanuncommonphenotypeofpachyonychiacongenitaonecasereportandreviewofliterature AT pingjiaochen novelheterozygousframeshiftmutationinthekrt6ageneresponsibleforanuncommonphenotypeofpachyonychiacongenitaonecasereportandreviewofliterature AT kangzeng novelheterozygousframeshiftmutationinthekrt6ageneresponsibleforanuncommonphenotypeofpachyonychiacongenitaonecasereportandreviewofliterature AT changxingli novelheterozygousframeshiftmutationinthekrt6ageneresponsibleforanuncommonphenotypeofpachyonychiacongenitaonecasereportandreviewofliterature |