Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done?

نویسندگان

  • Fernanda Sarquis Jehee
  • Beatriz A Burin
  • Kátia M Rocha
  • Roseli Zechi-Ceide
  • Daniela F Bueno
  • Luciano Brito
  • Josiane Souza
  • Gabriela Ferraz Leal
  • Antonio Richieri-Costa
  • Nivaldo Alonso
  • Paulo A Otto
  • Maria Rita Passos-Bueno
چکیده

Novel Mutations in IRF6 in Nonsyndromic Cleft Lip With or Without Cleft Palate: When Should IRF6 Mutational Screening be Done? Fernanda Sarquis Jehee, Beatriz A. Burin, K atia M. Rocha, Roseli Zechi-Ceide, Daniela F. Bueno, Luciano Brito, Josiane Souza, Gabriela Ferraz Leal, Antonio Richieri-Costa, Nivaldo Alonso, Paulo A. Otto, and Maria Rita Passos-Bueno* Centro de Estudos do Genoma Humano, Departamento de Gen etica e Biologia Evolutiva, Instituto de Biociências, Universidade de S~ao Paulo, S~ao Paulo, SP, Brazil Departamento de Gen etica Cl ınica, Hospital de Rehabilitaç~ao de Anomalias Craniofaciais (HRAC), Universidade de S~ao Paulo, Bauru, Brazil Sobrapar, Instituto de Cirurgia Pl astica, Campinas, S~ao Paulo, Brazil CAIF, Centro de Atendimento Integral ao Fissurado L abio Palatal, Curitiba, Paran a, Brazil Centro de Atenç~ao aos Defeitos da Face do Instituto Materno-Infantil Prof. Fernando Figueira (CADEFI), Recife, Brazil Departamento de Gen etica e Biologia Evolutiva, Instituto de Biociências, USP, S~ao Paulo, Brazil

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Novel lip pit phenotypes and mutations of IRF6 in Van der Woude syndrome patients from Pakistan.

The role of interferon regulatory factor 6 (IRF6) gene mutations in causing Van der Woude syndrome (VWS) and poplyteal pterygium syndrome has been described in different populations worldwide. The former is one of the major syndromes of cleft lip and/or cleft palate (CL/P) with the distinct phenotype of presence of pits with or without sinuses on the lower lip. We identified seven probands with...

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Novel mutations in the IRF6 gene in Brazilian families with Van der Woude syndrome.

Van der Woude Syndrome (VWS) is an autosomal craniofacial disorder characterized by lower lip pits and cleft lip and/or palate. Mutations in the interferon regulatory factor 6 (IRF6) gene have been identified in patients with VWS. To identify novel IRF6 mutations in patients affected by VWS, we screened 2 Brazilian families, sequencing the entire IRF6-coding region and flanking intronic boundar...

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Correction: TGFA and IRF6 Contribute to the Risk of Nonsyndromic Cleft Lip with or without Cleft Palate in Northeast China

Nonsyndromic cleft lip with or without cleft palate (NSCL/P) are common birth defects with a complex etiology. Multiple interacting loci and possible environmental factors influence the risk of NSCL/P. 12 single nucleotide polymorphisms (SNPs) in 7 candidate genes were tested using an allele-specific primer extension for case-control and case-parent analyses in northeast China in 236 unrelated ...

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Van Der Woude Syndrome

Submit Manuscript | http://medcraveonline.com by a mutation to interferon regulatory factor 6 on chromosome I [2]. They describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome [2]. Typical blind fistulas of the lower lip,...

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Association study between Van der Woude Syndrome causative gene GRHL3 and nonsyndromic cleft lip with or without cleft palate in a Chinese cohort.

Cleft lip with or without cleft palate (CL/P) is one of the most common birth defects worldwide and is characterized by abnormalities of the orofacial structure. Syndromic CL/P is mainly caused by Mendelian disorders such as Van der Woude Syndrome (VWS). However, >70% of CL/P cases are nonsyndromic, characterized by isolated orofacial cleft without any known syndrome. The etiology of nonsyndrom...

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عنوان ژورنال:
  • American journal of medical genetics. Part A

دوره 149A 6  شماره 

صفحات  -

تاریخ انتشار 2009