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Case 3.2
Published in Monica Fawzy, Plastic Surgery Vivas for the FRCS(Plast), 2023
The three signalling centres act on transcription factors within the cells in the developing limb bud. One of the most important factors is the HOX protein family, and in this case of synpolydactyly, the underlying aetiology is most likely HOX D13 mutation, inherited in an autosomal dominant fashion.
Hands
Published in Tor Wo Chiu, Stone’s Plastic Surgery Facts, 2018
Hox (homeobox) genes act on the limb bud. Their expression is dependent upon FGF, Sonic Hedgehog Shh and Wnt-7a. Hox genes (A, B, C and D) coordinate the model for proximo-distal patterning in the PZ. Mutations in HoxD13 are associated with synpolydactyly.
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Genetics: VATER is an acronym for the non-random association of Vertebral defects, Anal atresia, Tracheo-oesophageal fistula with Esophageal atresia, Radial or Renal dysplasia. At least three of these abnormalities are necessary to establish the diagnosis. VACTERL is an expanded acronym of the same association but which also includes Cardiac malformations and Limb anomalies. The VACTERL association is probably a heterogeneous condition and the cause is still unknown. Nearly all cases have been sporadic. It is more frequent in infants of diabetic mothers than in the general population. Recurrence risk is low, around 1%. In a few cases with an overlapping phenotype, mutations in the genes HOXD13 or PTEN and 16q24 microdeletions have been reported.
Pediatric embryonal brain tumors in the molecular era
Published in Expert Review of Molecular Diagnostics, 2020
Bryan K. Li, Salma Al-Karmi, Annie Huang, Eric Bouffet
The rarity of PB has impacted discovery of specific markers for it. PB is associated with germline mutations of RB1, where it presents in association with retinoblastoma (termed trilateral retinoblastoma) [105], and DICER1 [106,107], a cancer predisposition syndrome associated with pleuropulmonary blastoma, cystic nephroma, and other tumors of the ovary and thyroid. DICER1 encodes an endonuclease involved in the generation of miRNA, a key cellular mechanism used to regulate gene expression, particularly in embryonal development [108,109]. Related to this, a recent molecular analysis of 23 PB samples by Snuderl et al. reported recurrent deletions of DROSHA, another endonuclease also involved in miRNA biogenesis, in a quarter of cases [110]. Although disrupted miRNA biogenesis has been seen in other cancers [108], whether it is a driver in PB is yet to be confirmed. Alterations of chr 1, and complete or partial loss of chr 9, 13, 16, and 22 have also been observed among limited numbers of sporadic cases [111–114]. No recurrent mutations involving TP53 or CDKN1A have been reported, though overexpression of UBE2C, SOX4, TERT, and TEP1 have been described [115–117]. Similarly, overexpression of genes involved in proliferation (PRAME, CD24, POU4F2, HOXD13) have been reported in PB [117].
Mutational landscape of patients with acute myeloid leukemia or myelodysplastic syndromes in the context of RUNX1 mutation
Published in Hematology, 2020
Kai Wang, Feng Zhou, Xiaohui Cai, Hongying Chao, Ri Zhang, Suning Chen
The cDNA synthesis and multiple RT–PCR were conducted by using SureFireRTTM Kit (Promega, USA) (AIBOJIN, Cat#06-104) and Leukemia Related Fusion Gene Detection Kit (YUANQI BIO), respectively. Multiple RT–PCR amplification was performed as 8 parallel multiplex reactions on 7500 Real-time PCR System (Applied Biosystems). Leukemia Related Fusion Gene Detection Kit included 41 gene fusions (BCR-ABL, SIL-TAL1, E2A-HIF, TEL-AML1, MLL-AF4, E2A-PBX1, AML1-ETO, MLL-AF9, PML-RARα, MLL-(AF6, AF10, ELL, ENL), PLZF-RARα, STAT5b-RARα, NPM-MLF1, TEL-PDGFRB, PIP1L1-PDGFRA, AML-MDS1/EVI1, AML1-MTG16, CBFβ-MYH11, DEK-CAN, TEL-ABL, ETV6-PDGFRA, NUP98-(HoxA13, HoxC11, HoxD13, HoxA9, HoxA11, PMX1), TEL-JAK2, MLL-(AF17, AF1q, AF1p, AFX, SEPT6), (NPM, FIP1L1, PRKAR1A, NUMA1)-RARα).
Preaxial polydactyly of the foot
Published in Acta Orthopaedica, 2018
Elise B Burger, Martijn Baas, Steven E R Hovius, A Jeannette M Hoogeboom, Christianne A van Nieuwenhoven
The surgical literature mainly addresses the surgical treatment of preaxial polydactyly (Venn-Watson 1976, Masada et al. 1987, Belthur et al. 2011), whereas geneticists mainly focus on the genetic background of polydactyly, such as studies on GLI3 and HOXD13 (Biesecker 2011, Malik 2014). The lack of a clear overview of phenotypes that present with preaxial polydactyly of the foot makes it difficult for the surgeon to identify associated malformations and to recognize related syndromes. Associated malformations may be minimal or their detection requires additional diagnostic methods, such as an echocardiogram for cardiovascular anomalies. Therefore, a clear overview of the phenotypic and genotypic characteristics would be helpful.