Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families
Abstract Background Nance–Horan syndrome (NHS; MIM 302,350) is an extremely rare X-linked dominant disease characterized by ocular and dental anomalies, intellectual disability, and facial dysmorphic features. Case presentation We report on five affected males and three carrier females from three un...
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| Format: | Article |
| Language: | English |
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BMC
2023-05-01
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| Series: | BMC Oral Health |
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| Online Access: | https://doi.org/10.1186/s12903-023-03029-4 |
| _version_ | 1797817754863009792 |
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| author | Yeliz Guven Hilal Piril Saracoglu Sermin Dicle Aksakal Tugba Kalayci Umut Altunoglu Zehra Oya Uyguner Serpil Eraslan Esra Borklu Hulya Kayserili |
| author_facet | Yeliz Guven Hilal Piril Saracoglu Sermin Dicle Aksakal Tugba Kalayci Umut Altunoglu Zehra Oya Uyguner Serpil Eraslan Esra Borklu Hulya Kayserili |
| author_sort | Yeliz Guven |
| collection | DOAJ |
| description | Abstract Background Nance–Horan syndrome (NHS; MIM 302,350) is an extremely rare X-linked dominant disease characterized by ocular and dental anomalies, intellectual disability, and facial dysmorphic features. Case presentation We report on five affected males and three carrier females from three unrelated NHS families. In Family 1, index (P1) showing bilateral cataracts, iris heterochromia, microcornea, mild intellectual disability, and dental findings including Hutchinson incisors, supernumerary teeth, bud-shaped molars received clinical diagnosis of NHS and targeted NHS gene sequencing revealed a novel pathogenic variant, c.2416 C > T; p.(Gln806*). In Family 2, index (P2) presenting with global developmental delay, microphthalmia, cataracts, and ventricular septal defect underwent SNP array testing and a novel deletion encompassing 22 genes including the NHS gene was detected. In Family 3, two half-brothers (P3 and P4) and maternal uncle (P5) had congenital cataracts and mild to moderate intellectual deficiency. P3 also had autistic and psychobehavioral features. Dental findings included notched incisors, bud-shaped permanent molars, and supernumerary molars. Duo-WES analysis on half-brothers showed a hemizygous novel deletion, c.1867delC; p.(Gln623ArgfsTer26). Conclusions Dental professionals can be the first-line specialists involved in the diagnosis of NHS due to its distinct dental findings. Our findings broaden the spectrum of genetic etiopathogenesis associated with NHS and aim to raise awareness among dental professionals. |
| first_indexed | 2024-03-13T08:58:08Z |
| format | Article |
| id | doaj.art-25cccf58b36b418c8405150e53b89d49 |
| institution | Directory Open Access Journal |
| issn | 1472-6831 |
| language | English |
| last_indexed | 2024-03-13T08:58:08Z |
| publishDate | 2023-05-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Oral Health |
| spelling | doaj.art-25cccf58b36b418c8405150e53b89d492023-05-28T11:29:17ZengBMCBMC Oral Health1472-68312023-05-012311910.1186/s12903-023-03029-4Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new familiesYeliz Guven0Hilal Piril Saracoglu1Sermin Dicle Aksakal2Tugba Kalayci3Umut Altunoglu4Zehra Oya Uyguner5Serpil Eraslan6Esra Borklu7Hulya Kayserili8Department of Pedodontics, Faculty of Dentistry, Istanbul UniversityGraduate School of Heath Sciences, Koc UniversityDepartment of Pedodontics, Faculty of Dentistry, Istanbul UniversityDepartment of Medical Genetics, Istanbul Medical Faculty, Istanbul UniversityDepartment of Medical Genetics, Koc University School of Medicine (KUSoM)Department of Medical Genetics, Istanbul Medical Faculty, Istanbul UniversityGenetic Diseases Evaluation Center, Koc University HospitalGenetic Diseases Evaluation Center, Koc University HospitalDepartment of Medical Genetics, Koc University School of Medicine (KUSoM)Abstract Background Nance–Horan syndrome (NHS; MIM 302,350) is an extremely rare X-linked dominant disease characterized by ocular and dental anomalies, intellectual disability, and facial dysmorphic features. Case presentation We report on five affected males and three carrier females from three unrelated NHS families. In Family 1, index (P1) showing bilateral cataracts, iris heterochromia, microcornea, mild intellectual disability, and dental findings including Hutchinson incisors, supernumerary teeth, bud-shaped molars received clinical diagnosis of NHS and targeted NHS gene sequencing revealed a novel pathogenic variant, c.2416 C > T; p.(Gln806*). In Family 2, index (P2) presenting with global developmental delay, microphthalmia, cataracts, and ventricular septal defect underwent SNP array testing and a novel deletion encompassing 22 genes including the NHS gene was detected. In Family 3, two half-brothers (P3 and P4) and maternal uncle (P5) had congenital cataracts and mild to moderate intellectual deficiency. P3 also had autistic and psychobehavioral features. Dental findings included notched incisors, bud-shaped permanent molars, and supernumerary molars. Duo-WES analysis on half-brothers showed a hemizygous novel deletion, c.1867delC; p.(Gln623ArgfsTer26). Conclusions Dental professionals can be the first-line specialists involved in the diagnosis of NHS due to its distinct dental findings. Our findings broaden the spectrum of genetic etiopathogenesis associated with NHS and aim to raise awareness among dental professionals.https://doi.org/10.1186/s12903-023-03029-4Nance–Horan syndromeCataracts and teeth anomaliesHutchinson teethBud-shaped molarsScrewdriver shaped incisorsSupernumerary teeth |
| spellingShingle | Yeliz Guven Hilal Piril Saracoglu Sermin Dicle Aksakal Tugba Kalayci Umut Altunoglu Zehra Oya Uyguner Serpil Eraslan Esra Borklu Hulya Kayserili Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families BMC Oral Health Nance–Horan syndrome Cataracts and teeth anomalies Hutchinson teeth Bud-shaped molars Screwdriver shaped incisors Supernumerary teeth |
| title | Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families |
| title_full | Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families |
| title_fullStr | Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families |
| title_full_unstemmed | Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families |
| title_short | Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families |
| title_sort | nance horan syndrome characterization of dental clinical and molecular features in three new families |
| topic | Nance–Horan syndrome Cataracts and teeth anomalies Hutchinson teeth Bud-shaped molars Screwdriver shaped incisors Supernumerary teeth |
| url | https://doi.org/10.1186/s12903-023-03029-4 |
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