Screening for ARHGAP29 gene variants in Turkish paediatric patients with non-syndromic cleft lip with or without cleft palate

被引:1
|
作者
Ozdiler, Erhan [1 ]
Altug, Ayse Tuba [1 ]
Oner, Deniz Aslar [2 ]
Sancak, Ozlem [1 ]
Ozdiler, Orhan [1 ]
Tastan, Hakki [2 ]
机构
[1] Ankara Univ, Sch Dent, Dept Orthodont, Ankara, Turkey
[2] Gazi Univ, Dept Biol, Fac Sci, Ankara, Turkey
关键词
GENOME-WIDE ASSOCIATION; MATERNAL FOLATE INTAKE; OROFACIAL CLEFTS; RISK; POLYMORPHISMS; ETIOLOGY; MUTATION; MTHFR; LOCI;
D O I
10.1016/j.mgene.2019.100566
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Objective: In this study, we aimed to screen for Rho GTPase-activating protein 29 gene (ARHGAP29) variants in Turkish paediatric patients with non-syndromic cleft lip with or without cleft palate (nsCL/P). Methods: Our study comprised 80 nsCL/P patients and 125 unrelated Turkish individuals. Molecular analysis of the ARHGAP29 variants was carried out using polymerase chain reaction amplification and direct sequencing. Results: In this study, rs141866812, rs143877998, rs147752270, rs141653334, rs149136237, rs374087471, rs144585524 and rs201618253 single nucleotide polymorphisms in exons 2, 21 and 23 of ARHGAP29 were screened in patients with nsCL/P and in the control group. Mutations in the ARHGAP29 gene, which were previously identified in patients with nsCL/P of different ethnicities, were not observed in the Turkish patients. Conclusion: This is the first report investigating ARHGAP29 variants in Turkish patients with nsCL/P.
引用
收藏
页数:3
相关论文
共 50 条
  • [41] Identification of a Novel Variant of ARHGAP29 in a Chinese Family with Nonsyndromic Cleft Lip and Palate
    Tang, Jian-Xia
    Xiao, Xiang-Shui
    Wang, Kai
    Jin, Jie-Yuan
    Fan, Liang-Liang
    Xiang, Rong
    BIOMED RESEARCH INTERNATIONAL, 2020, 2020
  • [42] Comprehensive genetic analysis of patients with (non)-syndromic cleft lip with or without cleft palate
    Koudijs, M. J.
    Breugem, C. C.
    van der Molen, A. B. Mink
    van den Boogaard, M. J. H.
    van Amstel, J. K. Ploos
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 462 - 462
  • [43] MSX1 gene polymorphisms in non-syndromic cleft lip and/or palate
    Cardoso, M. L.
    Bezerra, J. F.
    Oliveira, G. H. M.
    Soares, C. D.
    Oliveira, S. R.
    de Souza, K. S. C.
    da Silva, H. P. V.
    Silbiger, V. N.
    Luchessi, A. D.
    Fajardo, C. M.
    Hirata, R. D. C.
    Almeida, M. G.
    Hirata, M. H.
    Rezende, A. A.
    ORAL DISEASES, 2013, 19 (05) : 507 - 512
  • [44] Variation of non-syndromic Cleft Lip/Palate in Yayasan Surabaya cleft Lip/Palate Center Surabaya, Indonesia
    Triwardhani, Ari
    Permatasari, Ghina W.
    Sjamsudin, Jusuf
    JOURNAL OF INTERNATIONAL ORAL HEALTH, 2019, 11 (04): : 187 - 190
  • [45] IRF6 polymorphisms in Brazilian patients with non-syndromic cleft lip with or without palate
    Bezerra, Joao Felipe
    Vital da Silva, Heglayne Pereira
    Bortolin, Raul Hernandes
    Luchessi, Andre Ducati
    Galvao Ururahy, Marcela Abbott
    Loureiro, Melina Bezerra
    Gil-da-Silva-Lopes, Vera Lucia
    Almeida, Maria das Gracas
    do Amaral, Viviane Souza
    de Rezende, Adriana Augusto
    BRAZILIAN JOURNAL OF OTORHINOLARYNGOLOGY, 2020, 86 (06) : 696 - 702
  • [46] The impact of developmental genes in non-syndromic cleft lip and/or palate
    Uysal, Nihal Sahin
    Sahin, Feride Iffet
    Terzi, Yunus Kasim
    JOURNAL OF THE TURKISH-GERMAN GYNECOLOGICAL ASSOCIATION, 2023, 24 (01) : 57 - 64
  • [47] A study on the hearing of children with non-syndromic cleft palate/lip
    Ramos do Amaral, Maria Isabel
    Martins, Jose Eduardo
    Colella dos Santos, Maria Francisca
    BRAZILIAN JOURNAL OF OTORHINOLARYNGOLOGY, 2010, 76 (02) : 164 - 171
  • [48] Nonsyndromic cleft palate only - evidence for a limited contribution of common variants in contrast to non-syndromic cleft lip plus /- palate
    Ishorst, N.
    Franceschelli, P.
    Mehrem, S.
    Boehmer, A.
    Fricker, N.
    Mossey, P.
    Noethen, M.
    Heilmann-Heimbach, S.
    Aldhorae, K.
    Rubini, M.
    Ludwig, K.
    Knapp, M.
    Mangold, E.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 243 - 244
  • [49] NEUROPSYCHOLOGICAL FUNCTIONING IN CHILDREN WITH NON-SYNDROMIC CLEFT OF THE LIP AND/OR PALATE
    Conrad, Amy Lynn
    Richman, Lynn
    Nopoulos, Peg
    Dailey, Scott
    CHILD NEUROPSYCHOLOGY, 2009, 15 (05) : 471 - 484
  • [50] Non-syndromic cleft lip with or without cleft palate in Asian populations: Association analysis on three gene polymorphisms of the folate pathway
    Martinelli, Marcella
    Girardi, Ambra
    Cura, Francesca
    Nouri, Nayereh
    Pinto, Valentina
    Carinci, Francesco
    Morselli, Paolo Giovanni
    Salehi, Mansoor
    Scapoli, Luca
    ARCHIVES OF ORAL BIOLOGY, 2016, 61 : 79 - 82