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Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6.
. 2016 09; 170(9):2404-7.

Abstract

Patients with Van der Woude syndrome typically present with cleft lip, cleft lip and palate, or with cleft palate only. In contrast to non-syndromic cleft lip and/or palate, Van der Woude syndrome typically is characterized by bilateral, paramedian lower-lip pits. Popliteal pterygium syndrome shares features with Van der Woude syndrome, but, in addition, is characterized by a popliteal pterygium, genital anomalies, cutaneous syndactyly of the fingers and the toes, and a characteristic pyramidal fold of skin overlying the nail of the hallux. In some patients oral synechiae or eyelid synechiae are present. Van der Woude Syndrome and Popliteal pterygium syndrome are autosomal dominantly inherited disorders caused by heterozygous mutations in IRF6. We present a three generation family with tremendous intrafamilial phenotypic variability. The newborn index patient had a diagnosis of Popliteal pterygium syndrome. The mother presented with a classic Van der Woude Syndrome, while the maternal grandfather had Van der Woude Syndrome as well as minor signs of Popliteal pterygium syndrome. In all three affecteds the known pathogenic mutation c.265A>G, p.Lys89Glu in IRF6 was identified. While inter- as well as intra-familial variability has been described in IRF6-related disorders, the occurrence of a typical Van der Woude Syndrome without any other anomalies as well as a diagnosis of Popliteal pterygium syndrome in the same family is rare. © 2016 Wiley Periodicals, Inc.

Authors+Show Affiliations

Institut für Humangenetik, Westfälische Wilhelms-Universität Münster, Münster, Germany. Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.Zentrum für Humangenetik und Institut für Humangenetik, Universität Regensburg, Regensburg, Germany.Klinik für Kiefer- und Gesichtschirurgie, Universität zu Lübeck, Lübeck, Germany.Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

27286731

Citation

Busche, Andreas, et al. "Van Der Woude and Popliteal Pterygium Syndromes: Broad Intrafamilial Variability in a Three Generation Family With Mutation in IRF6." American Journal of Medical Genetics. Part A, vol. 170, no. 9, 2016, pp. 2404-7.
Busche A, Hehr U, Sieg P, et al. Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6. Am J Med Genet A. 2016;170(9):2404-7.
Busche, A., Hehr, U., Sieg, P., & Gillessen-Kaesbach, G. (2016). Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6. American Journal of Medical Genetics. Part A, 170(9), 2404-7. https://doi.org/10.1002/ajmg.a.37791
Busche A, et al. Van Der Woude and Popliteal Pterygium Syndromes: Broad Intrafamilial Variability in a Three Generation Family With Mutation in IRF6. Am J Med Genet A. 2016;170(9):2404-7. PubMed PMID: 27286731.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6. AU - Busche,Andreas, AU - Hehr,Ute, AU - Sieg,Peter, AU - Gillessen-Kaesbach,Gabriele, Y1 - 2016/06/10/ PY - 2016/02/05/received PY - 2016/05/30/accepted PY - 2016/6/12/entrez PY - 2016/6/12/pubmed PY - 2017/10/20/medline KW - IRF6 KW - Popliteal pterygium syndrome KW - Van der Woude syndrome KW - intrafamilial variability SP - 2404 EP - 7 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 170 IS - 9 N2 - Patients with Van der Woude syndrome typically present with cleft lip, cleft lip and palate, or with cleft palate only. In contrast to non-syndromic cleft lip and/or palate, Van der Woude syndrome typically is characterized by bilateral, paramedian lower-lip pits. Popliteal pterygium syndrome shares features with Van der Woude syndrome, but, in addition, is characterized by a popliteal pterygium, genital anomalies, cutaneous syndactyly of the fingers and the toes, and a characteristic pyramidal fold of skin overlying the nail of the hallux. In some patients oral synechiae or eyelid synechiae are present. Van der Woude Syndrome and Popliteal pterygium syndrome are autosomal dominantly inherited disorders caused by heterozygous mutations in IRF6. We present a three generation family with tremendous intrafamilial phenotypic variability. The newborn index patient had a diagnosis of Popliteal pterygium syndrome. The mother presented with a classic Van der Woude Syndrome, while the maternal grandfather had Van der Woude Syndrome as well as minor signs of Popliteal pterygium syndrome. In all three affecteds the known pathogenic mutation c.265A>G, p.Lys89Glu in IRF6 was identified. While inter- as well as intra-familial variability has been described in IRF6-related disorders, the occurrence of a typical Van der Woude Syndrome without any other anomalies as well as a diagnosis of Popliteal pterygium syndrome in the same family is rare. © 2016 Wiley Periodicals, Inc. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/27286731/Van_der_Woude_and_Popliteal_Pterygium_Syndromes:_Broad_intrafamilial_variability_in_a_three_generation_family_with_mutation_in_IRF6_ L2 - https://doi.org/10.1002/ajmg.a.37791 DB - PRIME DP - Unbound Medicine ER -