Mutation and association analysis of the PVR and PVRL2 genes in patients with non-syndromic cleft lip and palate

Genetics and Molecular Biology

Mehmet A. Sözen²  Jacqueline T. Hecht¹  Richard A. Spritz¹ 

[1] ,Afyon Kocatepe University School of Medicine Department of Medical BiologyAfyonkarahisar,Turkey

关键词: PVR;    PVRL2;    cleft lip and palate;    mutation;    SSCP;   

DOI  :  10.1590/S1415-47572009000300007

来源: SciELO

【 摘 要 】

Orofacial clefts (OFC; MIM 119530) are among the most common major birth defects. Here, we carried out mutation screening of the PVR and PVRL2 genes, which are both located at an OFC linkage region at 19q13 (OFC3) and are closely related to PVRL1, which has been associated with both syndromic and non-syndromic cleft lip and palate (nsCLP). We screened a total of 73 nsCLP patients and 105 non-cleft controls from the USA for variants in PVR and PVRL2, including all exons and encompassing all isoforms. We identified four variants in PVR and five in PVRL2. One non-synonymous PVR variant, A67T, was more frequent among nsCLP patients than among normal controls, but this difference did not achieve statistical significance.

【 授权许可】

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