A novel mutation inIRF6 resulting in VWS–PPS spectrum disorder with renal aplasia
| Autor: | Filipe de Medeiros, Linda P. Jakobsen, Camilla Asklund, Hans Eiberg, Evete Mawlad, Lars Hansen, Niels Tommerup |
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| Rok vydání: | 2008 |
| Předmět: |
Male
medicine.medical_specialty Molecular Sequence Data Ankyloblepharon Mutation Missense Kidney Internal medicine Genetics medicine Humans Missense mutation Abnormalities Multiple Van der Woude syndrome Genetics (clinical) Base Sequence business.industry Exons Syndrome Aplasia medicine.disease Dermatology Endocrinology medicine.anatomical_structure Popliteal pterygium syndrome Hypospadias Child Preschool Interferon Regulatory Factors IRF6 business |
| Zdroj: | American Journal of Medical Genetics Part A. :1605-1608 |
| ISSN: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.32257 |
| Popis: | Popliteal pterygium syndrome (PPS) and Van der Woude syndrome (VWS) are caused by mutations in the gene interferon regulatory factor 6 (IRF6). Skeletal, genital malformations and involvement of the skin occur in PPS and orofacial clefting and lip pits occur in both. We report on a patient with unilateral cleft lip and palate, ankyloblepharon, paramedian lip pits, unilateral renal aplasia, and a coronal hypospadias. By sequencing IRF6, we detected a novel missense mutation (Arg339Ile). The other family members were unaffected and had no IRF6 mutations, including the patient's brother who was also born with hypospadias. The patient and his brother were both conceived by in vitro fertilization (IVF). It is discussed whether the renal malformation in the patient is related to the IVF procedure or to the IRF6 mutation. © 2008 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
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