Oral-facial-digital (OFD) sendromlar kümesi

Aşağıda verilen 11 fenotipe eklenen yeni fenotipler olabilir

OFD arasında en sık ratlanılanı OFP tip I (Kalıtsal- XLD)

OFD tip I temel bulguları içerir

Sıkça rastlanan OFD’lerde, OFD tip I’e eklenen/çıkarılan yan bulgular vardır (ender fenotiplerin ayrıntıları verilmemiştir)

 

OFD I (Papillon-Léage sendromu; Psaume sendromu)

OFD II (Mohr sendromu)

OFD III (Sugarman sendromu; süpernümerer dişler, mikrodonti) Çok ender

OFD IV (Mohr-Majewski sendromu; Baraitser-Burn sendromu)

OFD V (Thurston sendromu)

OFP VI (Varadi-Papp sendromu)

OFD VII (Whelan sendromu) Çok ender

OFD VIII (retina anomalileri) Çok ender

OFD IX (retina ve koroid anomalileri, mikrosefali, altçenede bilateral süpernümerer kanin, üst dudak orta çizgi yarığı, yarık damak, çok sayıda frenulum, dil malformasyonları) Çok ender

OFD X (retrognati, yarık damak) Çok ender

OFD XI (Gabrielli sendromu) Ender

OFD XIV (yarık damak, yarık dudak, yarık dil, , süpernümerer dişler, dilde nodüller-hamartomlar, yanak frenulumu, epiglot yokluğu) Ender-7 olgu

OFD XV (alveol kretleri yarık, dilde lobülasyon) Çok ender

OFD XVI (retrognati, çok sayıda frenulum, dilde kistler-hamartomlar) Çok ender

OFD XVII (üst dudak orta çizgi yarığı, çukur damak, dilde nodüller) Çok ender

OFD XVII (üst dudak orta çizgi yarığı, çok sayıda frenulum) Çok ender

 

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  • Figuera LE, Rivas F, Cantu JM. Oral-facial-digital syndrome with fibular aplasia: a new variant. Clinical Genetics, 44: 190-192, 1993

  • Ferrero GB, Valenzise M, Franco B, et al. Oral, facial, digital, vertebral anomalies with psychomotor delay: a mild form of OFD type Gabrielli? American Journal of Medical Genetics, 113: 291-294, 2002

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  • Thomas S, Legendre M, Saunier S, et al. TCTN3 mutations cause Mohr-Majewski syndrome. American Journal of Human Genetics, 91: 372-378, 2012

  • Thauvin-Robinet C, Lee JS, Lopez E,  et al. The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. Nature Genetics, 46: 905-911, 2014

  • Chevrier V, Bruel A-L, Van Dam TJP, et al. OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome. Human Molecular Genetics, 25: 497-513, 2016

  • Lambacher NJ, Bruel A-L, van Dam TJP, et al. TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. Nature Cell Biology, 18: 122-131, 2016

  • Thevenon J, Duplomb L, Phadke S, et al. Autosomal recessive IFT57 hypomorphic mutation cause (sic) ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia. Clinical Genetics, 90: 509-517, 2016

  • Bruel A-L, Franco B, Duffourd Y, et al. Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. Journal of Medical Genetics, 54: 371-380, 2017

  • Boczek NJ, Hopp K, Benoit L, et al. Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants. European Journal of Human Genetics, 26: 1797-1809, 2018