Cooccurring Type 1 Diabetes Mellitus and Autoimmune Thyroiditis in a Girl with Craniofrontonasal Syndrome: Are <i>EFNB1</i> Variants Associated with Autoimmunity?
Craniofrontonasal syndrome (CFNS), also known as craniofrontonasal dysplasia, is an X-linked inherited developmental malformation caused by mutations in the ephrin B1 (<i>EFNB1</i>) gene. The main phenotypic features of the syndrome are coronal synostosis, hypertelorism, bifid nasal tip,...
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MDPI AG
2022-12-01
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| Series: | Pharmaceuticals |
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| Online Access: | https://www.mdpi.com/1424-8247/15/12/1535 |
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| author | Sebla Güneş Jiangping Wu Berk Özyılmaz Reyhan Deveci Sevim Tolga Ünüvar Ahmet Anık |
| author_facet | Sebla Güneş Jiangping Wu Berk Özyılmaz Reyhan Deveci Sevim Tolga Ünüvar Ahmet Anık |
| author_sort | Sebla Güneş |
| collection | DOAJ |
| description | Craniofrontonasal syndrome (CFNS), also known as craniofrontonasal dysplasia, is an X-linked inherited developmental malformation caused by mutations in the ephrin B1 (<i>EFNB1</i>) gene. The main phenotypic features of the syndrome are coronal synostosis, hypertelorism, bifid nasal tip, dry and curly hair, and longitudinal splitting of nails. A 9-year-and-11-month-old girl with CFNS was admitted due to polyuria, polydipsia, fatigue, and abdominal pain. On physical examination, she had the classical phenotypical features of CFNS. Genetic tests revealed a c.429_430insT (p.Gly144TrpfsTer31) heterozygote variant in the <i>EFNB1</i> coding region. The patient was diagnosed with type 1 diabetes mellitus (T1DM) and autoimmune thyroiditis based on laboratory findings and symptoms. The mother of the patient, who had the same CFNS phenotype and EFNB1 variant, was screened for autoimmune diseases and was also with autoimmune thyroiditis. This is the first report describing the association of CFNS with T1DM and autoimmune thyroiditis in patients with <i>EFNB1</i> mutation. |
| first_indexed | 2024-03-09T15:59:54Z |
| format | Article |
| id | doaj.art-fd341f2398c345f5b33a3937a4b99471 |
| institution | Directory Open Access Journal |
| issn | 1424-8247 |
| language | English |
| last_indexed | 2024-03-09T15:59:54Z |
| publishDate | 2022-12-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Pharmaceuticals |
| spelling | doaj.art-fd341f2398c345f5b33a3937a4b994712023-11-24T17:16:52ZengMDPI AGPharmaceuticals1424-82472022-12-011512153510.3390/ph15121535Cooccurring Type 1 Diabetes Mellitus and Autoimmune Thyroiditis in a Girl with Craniofrontonasal Syndrome: Are <i>EFNB1</i> Variants Associated with Autoimmunity?Sebla Güneş0Jiangping Wu1Berk Özyılmaz2Reyhan Deveci Sevim3Tolga Ünüvar4Ahmet Anık5Division of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Aydın Adnan Menderes University, 09100 Aydın, TurkeyCentre de Recherche, Centre Hospitalier de l’Université de Montréal (CHUM), Montreal, QU H2X 0A9, CanadaGenetic Diagnosis Center, Tepecik Training and Research Hospital, University of Health Sciences, 35020 Izmir, TurkeyDivision of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Aydın Adnan Menderes University, 09100 Aydın, TurkeyDivision of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Aydın Adnan Menderes University, 09100 Aydın, TurkeyDivision of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Aydın Adnan Menderes University, 09100 Aydın, TurkeyCraniofrontonasal syndrome (CFNS), also known as craniofrontonasal dysplasia, is an X-linked inherited developmental malformation caused by mutations in the ephrin B1 (<i>EFNB1</i>) gene. The main phenotypic features of the syndrome are coronal synostosis, hypertelorism, bifid nasal tip, dry and curly hair, and longitudinal splitting of nails. A 9-year-and-11-month-old girl with CFNS was admitted due to polyuria, polydipsia, fatigue, and abdominal pain. On physical examination, she had the classical phenotypical features of CFNS. Genetic tests revealed a c.429_430insT (p.Gly144TrpfsTer31) heterozygote variant in the <i>EFNB1</i> coding region. The patient was diagnosed with type 1 diabetes mellitus (T1DM) and autoimmune thyroiditis based on laboratory findings and symptoms. The mother of the patient, who had the same CFNS phenotype and EFNB1 variant, was screened for autoimmune diseases and was also with autoimmune thyroiditis. This is the first report describing the association of CFNS with T1DM and autoimmune thyroiditis in patients with <i>EFNB1</i> mutation.https://www.mdpi.com/1424-8247/15/12/1535craniofrontonasal syndromeephrin B1autoimmune diseasestype 1 diabetes mellitusautoimmune thyroiditis |
| spellingShingle | Sebla Güneş Jiangping Wu Berk Özyılmaz Reyhan Deveci Sevim Tolga Ünüvar Ahmet Anık Cooccurring Type 1 Diabetes Mellitus and Autoimmune Thyroiditis in a Girl with Craniofrontonasal Syndrome: Are <i>EFNB1</i> Variants Associated with Autoimmunity? Pharmaceuticals craniofrontonasal syndrome ephrin B1 autoimmune diseases type 1 diabetes mellitus autoimmune thyroiditis |
| title | Cooccurring Type 1 Diabetes Mellitus and Autoimmune Thyroiditis in a Girl with Craniofrontonasal Syndrome: Are <i>EFNB1</i> Variants Associated with Autoimmunity? |
| title_full | Cooccurring Type 1 Diabetes Mellitus and Autoimmune Thyroiditis in a Girl with Craniofrontonasal Syndrome: Are <i>EFNB1</i> Variants Associated with Autoimmunity? |
| title_fullStr | Cooccurring Type 1 Diabetes Mellitus and Autoimmune Thyroiditis in a Girl with Craniofrontonasal Syndrome: Are <i>EFNB1</i> Variants Associated with Autoimmunity? |
| title_full_unstemmed | Cooccurring Type 1 Diabetes Mellitus and Autoimmune Thyroiditis in a Girl with Craniofrontonasal Syndrome: Are <i>EFNB1</i> Variants Associated with Autoimmunity? |
| title_short | Cooccurring Type 1 Diabetes Mellitus and Autoimmune Thyroiditis in a Girl with Craniofrontonasal Syndrome: Are <i>EFNB1</i> Variants Associated with Autoimmunity? |
| title_sort | cooccurring type 1 diabetes mellitus and autoimmune thyroiditis in a girl with craniofrontonasal syndrome are i efnb1 i variants associated with autoimmunity |
| topic | craniofrontonasal syndrome ephrin B1 autoimmune diseases type 1 diabetes mellitus autoimmune thyroiditis |
| url | https://www.mdpi.com/1424-8247/15/12/1535 |
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