Kagami-Ogata Syndrome: Case Series and Review of Literature

Abstract

Kagami-Ogata syndrome (KOS) (OMIM #608149) is a genetic imprinting disorder affecting chromosome 14 that results in a characteristic phenotype consisting of typical facial features, skeletal abnormalities including rib abnormalities described as “coat hanger ribs,” respiratory distress, abdominal wall defects, polyhydramnios, and developmental delay. First identified by Wang et al in 1991, over 80 cases of KOS have been reported in the literature. KOS, however, continues to remain a rare and potentially underdiagnosed disorder. In this report, we describe two unrelated male infants with differing initial presentations who were both found to have the characteristic “coat hanger” rib appearance on chest X-ray, raising suspicion for KOS. Molecular testing confirmed KOS in each case. In addition to these new cases, we reviewed the existing cases reported in literature. Presence of polyhydramnios, small thorax, curved ribs, and abdominal wall defects must alert the perinatologist toward the possibility of KOS to facilitate appropriate molecular testing. The overall prognosis of KOS remains poor. Early diagnosis allows for counseling by a multidisciplinary team and enables parents to make informed decisions regarding both pregnancy management and postnatal care.

Keywords

paternal UPD(14) - coat-hanger ribs - 14q32.2 - omphalocele

Publikationsverlauf

Eingereicht: 28. Dezember 2020

Angenommen: 08. Februar 2021

Artikel online veröffentlicht:
27. Mai 2021

• References

• 1 Wang JC, Passage MB, Yen PH, Shapiro LJ, Mohandas TK. Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier. Am J Hum Genet 1991; 48 (06) 1069-1074
• 2 Kagami M, Sekita Y, Nishimura G. et al. Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes. Nat Genet 2008; 40 (02) 237-242
• 3 Kagami M, Kurosawa K, Miyazaki O, Ishino F, Matsuoka K, Ogata T. Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome). Eur J Hum Genet 2015; 23 (11) 1488-1498
• 4 McKusick VA, Kniffin CL. #608149: Kagami-Ogata Syndrome. OMIM. Johns Hopkins University; Accessed March 13, 2021 at https://www.omim.org/entry/608149#1
• 5 Orphanet: Kagami Ogata syndrome. Accessed March 13, 2021 at https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=254519
• 6 Offiah AC, Cornette L, Hall CM. Paternal uniparental disomy 14: introducing the “coat-hanger” sign. Pediatr Radiol 2003; 33 (07) 509-512
• 7 Walter CA, Shaffer LG, Kaye CI. et al. Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XY,idic(14)(p11). Am J Med Genet 1996; 65 (04) 259-265
• 8 Coveler KJ, Yang SP, Sutton R. et al. A case of segmental paternal isodisomy of chromosome 14. Hum Genet 2002; 110 (03) 251-256
• 9 Cotter PD, Kaffe S, McCurdy LD, Jhaveri M, Willner JP, Hirschhorn K. Paternal uniparental disomy for chromosome 14: a case report and review. Am J Med Genet 1997; 70 (01) 74-79
• 10 Jung HS, Vallee SE, Dinulos MB, Tsongalis GJ, Lefferts JA. Maternally inherited 133kb deletion of 14q32 causing Kagami-Ogata syndrome. J Hum Genet 2018; 63 (12) 1231-1239
• 11 Mattes J, Whitehead B, Liehr T. et al. Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14. Am J Med Genet A 2007; 143A (18) 2165-2171
• 12 Schmeh I, Kidszun A, Lausch E, Bartsch O, Mildenberger E. Chest radiograph as diagnostic clue in a floppy infant. J Pediatr 2016; 177: 324-324.e1
• 13 Chu C, Schwartz S, McPherson E. Paternal uniparental isodisomy for chromosome 14 in a patient with a normal 46,XY karyotype. Am J Med Genet A 2004; 127A [phone]
• 14 Irving MD, Buiting K, Kanber D. et al. Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14. Am J Med Genet A 2010; 152A [phone]
• 15 Sargar KM, Herman TE, Siegel MJ. Paternal uniparental disomy of chromosome 14. J Perinatol 2014; 34 (09) 723-725
• 16 Igreja da Silva JI, Ribeiro B, Cadilhe A, Nogueira-Silva C. Paternal uniparental disomy for chromosome 14: prenatal management. BMJ Case Rep 2019; 12 (12) e231705
• 17 Boiffard F, Bénéteau C, Quéré MP, Philippe HJ, Le Vaillant C. Quand faut-il évoquer en anténatal une disomie uniparentale paternelle 14?. [When should evoke prenatal paternal uniparental disomy 14?] Gynécol Obstét Fertil 2014; 42 (04) 254-257
• 18 van der Werf IM, Buiting K, Czeschik C. et al. Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome. Eur J Hum Genet 2016; 24 (12) 1724-1729
• 19 Yamagata K, Kawamura A, Kasai S, Akazawa M, Takeda M, Tachibana K. Anesthetic management of a child with Kagami-Ogata syndrome complicated with marked tracheal deviation: a case report. JA Clin Rep 2018; 4 (01) 62
• 20 Wang X, Pang H, Shah BA, Gu H, Zhang L, Wang H. A male case of Kagami-Ogata syndrome caused by paternal unipaternal disomy 14 as a result of a Robertsonian translocation. Front Pediatr 2020; 8: 88
• 21 Yuan H, Xie Y, Li Q. et al. Paternal uniparental disomy of chromosome 14 with hypospadias. Cytogenet Genome Res 2016; 148 (04) 256-261
• 22 Charlier C, Segers K, Wagenaar D. et al. Human-ovine comparative sequencing of a 250-kb imprinted domain encompassing the callipyge (clpg) locus and identification of six imprinted transcripts: DLK1, DAT, GTL2, PEG11, antiPEG11, and MEG8. Genome Res 2001; 11 (05) 850-862
• 23 Murphy SK, Wylie AA, Coveler KJ. et al. Epigenetic detection of human chromosome 14 uniparental disomy. Hum Mutat 2003; 22 (01) 92-97
• 24 Lin SP, Youngson N, Takada S. et al. Asymmetric regulation of imprinting on the maternal and paternal chromosomes at the Dlk1-Gtl2 imprinted cluster on mouse chromosome 12. Nat Genet 2003; 35 (01) 97-102
• 25 Ogata T, Kagami M. Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region. J Hum Genet 2016; 61 (02) 87-94
• 26 Corsello G, Salzano E, Vecchio D. et al. Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: patient report and genotype-phenotype correlation. Am J Med Genet A 2015; 167A (12) 3130-3138
• 27 Luk HM. Familial Kagami-Ogata syndrome in Chinese. Clin Dysmorphol 2017; 26 (02) 124-127
• 28 Haug MG, Brendehaug A, Houge G, Kagami M, Ogata T. Mosaic upd(14)pat in a patient with mild features of Kagami-Ogata syndrome. Clin Case Rep 2017; 6 (01) 91-95
• 29 Kagami M, Kato F, Matsubara K, Sato T, Nishimura G, Ogata T. Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype. Eur J Hum Genet 2012; 20 (09) 928-932
• 30 Chen CL, Lee CN, Lin MW, Hsu WW, Tai YY, Lin SY. Prenatal diagnosis of paternal uniparental disomy for chromosome 14 using a single-nucleotide-polymorphism-based microarray analysis: a case report. J Formos Med Assoc 2019; 118 (03) 739-742
• 31 Klein J. Delineation of the paternal disomy 14 syndrome: identification of a case by prenatal diagnosis. Am J Hum Genet 1999; 65: A179
• 32 Yamanaka M, Ishikawa H, Saito K. et al. Prenatal findings of paternal uniparental disomy 14: report of four patients. Am J Med Genet A 2010; 152A [phone]
• 33 Suzumori N, Ogata T, Mizutani E. et al. Prenatal findings of paternal uniparental disomy 14: delineation of further patient. Am J Med Genet A 2010; 152A (12) 3189-3192
• 34 Watanabe T, Go H, Kagami M, Yasuda S, Nomura Y, Fujimori K. Prenatal findings and epimutations for paternal uniparental disomy for chromosome 14 syndrome. J Obstet Gynaecol Res 2015; 41 (07) 1133-1136
• 35 Curtis L, Antonelli E, Vial Y. et al. Prenatal diagnostic indicators of paternal uniparental disomy 14. Prenat Diagn 2006; 26 (08) 662-666
• 36 Waggoner D, Wain KE, Dubuc AM. et al; ACMG Professional Practice and Guidelines Committee. Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2018; 20 (10) 1105-1113
• 37 Sasaki A, Sumie M, Wada S. et al. Prenatal genetic testing for a microdeletion at chromosome 14q32.2 imprinted region leading to UPD(14)pat-like phenotype. Am J Med Genet A 2014; 164A [phone]
• 38 Miyazaki O, Nishimura G, Kagami M, Ogata T. Radiological evaluation of dysmorphic thorax of paternal uniparental disomy 14. Pediatr Radiol 2011; 41 (08) 1013-1019
• 39 Kagami M, Nishimura G, Okuyama T. et al. Segmental and full paternal isodisomy for chromosome 14 in three patients: narrowing the critical region and implication for the clinical features. Am J Med Genet A 2005; 138A [phone]
• 40 Altmann J, Horn D, Korinth D, Eggermann T, Henrich W, Verlohren S. Kagami-Ogata syndrome: an important differential diagnosis to Beckwith-Wiedemann syndrome. J Clin Ultrasound 2020; 48 (04) 240-243
• 41 Towner D, Yang SP, Shaffer LG. Prenatal ultrasound findings in a fetus with paternal uniparental disomy 14q12-qter. Ultrasound Obstet Gynecol 2001; 18 (03) 268-271
• 42 Horii M, Horiuchi H, Momoeda M. et al. Hepatoblastoma in an infant with paternal uniparental disomy 14. Congenit Anom (Kyoto) 2012; 52 (04) 219-220
• 43 Papenhausen PR, Mueller OT, Sutcliffe M, Diamond TM, Kousseff BG, Johnson VP. Uniparental isodisomy of chromosome 14 in two cases: an abnormal child and a normal adult. Am J Med Genet 1996; 66 (01) 90
• 44 Yano S, Li L, Owen S, Wu S, Tran T. A further delineation of the uniparental disomy (UPD 14): the fifth reported liveborn case. Am J Hum Genet 2001; 69 (Suppl): A739
• 45 McGowan KD, Weiser JJ, Horwitz J. et al. The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements. Prenat Diagn 2002; 22 (02) 141-143
• 46 Stevenson DA, Brothman AR, Chen Z, Bayrak-Toydemir P, Longo N. Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype. Am J Med Genet A 2004; 130A (01) 88-91
• 47 Beygo J, Elbracht M, de Groot K. et al. Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32. Eur J Hum Genet 2015; 23 (02) 180-188
• 48 Vecchio D, Giuffrè M. The Coat-Hanger angle sign. J Pediatr 2016; 177: 325-325.e1
• 49 Huang H, Mikami Y, Shigematsu K. et al. Kagami-Ogata syndrome in a fetus presenting with polyhydramnios, malformations, and preterm delivery: a case report. J Med Case Reports 2019; 13 (01) 340
• 50 Al-Mudares F, Fernandes CJ. “Coat Hanger” appearance of the ribs. N Engl J Med 2020; 382 (13) 1257