Maternally inherited deletion encompassing the RTL1as and MEG8 genes of the human 14q32 imprinted region in a patient with a mild Kagami-Ogata syndrome phenotype.
Kagami-Ogata syndrome
MEG8 gene
RTL1as gene
deletion
maternally inherited 14q32 deletion
single nucleotide polymorphism array
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
08 2023
08 2023
Historique:
revised:
02
05
2023
received:
08
11
2022
accepted:
06
05
2023
medline:
19
7
2023
pubmed:
24
5
2023
entrez:
24
5
2023
Statut:
ppublish
Résumé
Kagami-Ogata syndrome and Temple syndrome are imprinting disorders caused by the abnormal expression of genes in an imprinted cluster on chromosome 14q32. Here, we report a female with mild features of the Kagami-Ogata syndrome phenotype with polyhydramnios, neonatal hypotonia, feeding difficulties, abnormal foot morphology, patent foramen ovale, distal arthrogryposis, normal facial profile, and a bell-shaped thorax without coat hanger ribs. The single nucleotide polymorphism array revealed the interstitial deletion of chromosome 14q32.2-q32.31 (117 kb in size), involving the RTL1as and MEG8 genes, and other small nucleolar RNAs and microRNAs. The differentially methylated regions (DMRs) appeared unaltered. The RTL1as gene deletion and the normal methylation pattern of the MEG3 gene loci were confirmed by methylation-specific multiplex ligation-dependent probe amplification. Deletions of the 14q32 region without involving DMRs, and encompassing only the RTL1as and MEG8 genes, are poorly described in the literature. The mother's chromosomal microarray also confirmed the identical 14q32.2 deletion, although she presented a normal phenotype. The maternally inherited 14q32 deletion was responsible for Kagami-Ogata syndrome in our patient. It was not sufficient, however, to produce Temple syndrome or any other pathogenic phenotype in the patient's mother.
Identifiants
pubmed: 37222159
doi: 10.1002/ajmg.a.63251
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
2225-2231Informations de copyright
© 2023 Wiley Periodicals LLC.
Références
Altmann, J., Horn, D., Korinth, D., Eggermann, T., Henrich, W., & Verlohren, S. (2020). Kagami-Ogata syndrome: An important differential diagnosis to Beckwith-Wiedemann syndrome. Journal of Clinical Ultrasound, 48(4), 240-243. https://doi.org/10.1002/jcu.22815
Beygo, J., Elbracht, M., de Groot, K., Begemann, M., Kanber, D., Platzer, K., Gillessen-Kaesbach, G., Vierzig, A., Green, A., Heller, R., Buiting, K., & Eggermann, T. (2015). Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32. European Journal of Human Genetics, 23(2), 180-188. https://doi.org/10.1038/ejhg.2014.72
Beygo, J., Mertel, C., Kaya, S., Gillessen-Kaesbach, G., Eggermann, T., Horsthemke, B., & Buiting, K. (2018). The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders. Epigenetics, 13(8), 822-828. https://doi.org/10.1080/15592294.2018.1514233
Classen, C. F., Riehmer, V., Landwehr, C., Kosfeld, A., Heilmann, S., Scholz, C., Kabisch, S., Engels, H., Tierling, S., Zivicnjak, M., Schacherer, F., Haffner, D., & Weber, R. G. (2013). Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis. Human Genetics, 132(7), 825-841. https://doi.org/10.1007/s00439-013-1296-1
Corsello, G., Salzano, E., Vecchio, D., Antona, V., Grasso, M., Malacarne, M., Carella, M., Palumbo, P., Piro, E., & Giuffrè, M. (2015). 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. American Journal of Medical Genetics. Part A, 167A(12), 3130-3138. https://doi.org/10.1002/ajmg.a.37293
Jung, H.-S., Vallee, S. E., Dinulos, M. B., Tsongalis, G. J., & Lefferts, J. A. (2018). Maternally inherited 133kb deletion of 14q32 causing Kagami-Ogata syndrome. Journal of Human Genetics, 63(12), 1231-1239. https://doi.org/10.1038/s10038-018-0506-z
Kagami, M., Kurosawa, K., Miyazaki, O., Ishino, F., Matsuoka, K., & Ogata, T. (2015). Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome). European Journal of Human Genetics, 23(11), 1488-1498. https://doi.org/10.1038/ejhg.2015.13
Kagami, M., Nagasaki, K., Kosaki, R., Horikawa, R., Naiki, Y., Saitoh, S., Tajima, T., Yorifuji, T., Numakura, C., Mizuno, S., Nakamura, A., Matsubara, K., Fukami, M., & Ogata, T. (2017). Temple syndrome: Comprehensive molecular and clinical findings in 32 Japanese patients. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 19(12), 1356-1366. https://doi.org/10.1038/gim.2017.53
Kagami, M., O'Sullivan, M. J., Green, A. J., Watabe, Y., Arisaka, O., Masawa, N., Matsuoka, K., Fukami, M., Matsubara, K., Kato, F., Ferguson-Smith, A. C., & Ogata, T. (2010). The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: Hierarchical interaction and distinct functional properties as imprinting control centers. PLoS Genetics, 6(6), e1000992. https://doi.org/10.1371/journal.pgen.1000992
Kagami, M., Sekita, Y., Nishimura, G., Irie, M., Kato, F., Okada, M., Yamamori, S., Kishimoto, H., Nakayama, M., Tanaka, Y., Matsuoka, K., Takahashi, T., Noguchi, M., Tanaka, Y., Masumoto, K., Utsunomiya, T., Kouzan, H., Komatsu, Y., Ohashi, H., … Ogata, T. (2008). Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes. Nature Genetics, 40(2), 237-242. https://doi.org/10.1038/ng.2007.56
Luk, H.-M. (2017). Familial Kagami-Ogata syndrome in Chinese. Clinical Dysmorphology, 26(2), 124-127. https://doi.org/10.1097/MCD.0000000000000158
Karger AG, S. (2020). ISCN 2020. (McGowan-Jordan, J., Hastings, R. J., Moore, S., Eds.). https://doi.org/10.1159/isbn.978-3-318-06867-2
Omark, J., Masunaga, Y., Hannibal, M., Shaw, B., Fukami, M., Kato, F., Saitsu, H., Kagami, M., & Ogata, T. (2021). Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3. Journal of Human Genetics, 66(4), 439-443. https://doi.org/10.1038/s10038-020-00858-x
Riggs, E. R., Andersen, E. F., Cherry, A. M., Kantarci, S., Kearney, H., Patel, A., Raca, G., Ritter, D. I., South, S. T., Thorland, E. C., Pineda-Alvarez, D., Aradhya, S., Martin, C. L., & the ACMG. (2020). Technical standards for the interpretation and reporting of constitutional copy-number variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the clinical genome resource (ClinGen). Genetics in Medicine: Official Journal of the American College of Medical Genetics, 22(2), 245-257. https://doi.org/10.1038/S41436-019-0686-8
Rosenfeld, J. A., Fox, J. E., Descartes, M., Brewer, F., Stroud, T., Gorski, J. L., Upton, S. J., Moeschler, J. B., Monteleone, B., Neill, N. J., Lamb, A. N., Ballif, B. C., Shaffer, L. G., & Ravnan, J. B. (2015). Clinical features associated with copy number variations of the 14q32 imprinted gene cluster. American Journal of Medical Genetics. Part A, 167A(2), 345-353. https://doi.org/10.1002/ajmg.a.36866
Sabria-Back, J., Monteagudo-Sánchez, A., Sánchez-Delgado, M., Ferguson-Smith, A. C., Gómez, O., Pertierra Cartada, A., Tenorio, J., Nevado, J., Lapunzina, P., Pereda Aguirre, A., Giménez Sevilla, C., Toro Toro, E., Perez de Nanclares, G., & Monk, D. (2022). Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome. Journal of Medical Genetics, 59(3), 253-261. https://doi.org/10.1136/jmedgenet-2020-107433
Sakaria, R. P., Mostafavi, R., Miller, S., Ward, J. C., Pivnick, E. K., & Talati, A. J. (2021). Kagami-Ogata syndrome: Case series and review of literature. American Journal of Perinatology Reports, 11(2), e65-e75. https://doi.org/10.1055/s-0041-1727287
Severi, G., Bernardini, L., Briuglia, S., Bigoni, S., Buldrini, B., Magini, P., Dentici, M. L., Cordelli, D. M., Arrigo, T., Franzoni, E., Fini, S., Italyankina, E., Loddo, I., Novelli, A., & Graziano, C. (2016). New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer. American Journal of Medical Genetics. Part A, 170A(1), 162-169. https://doi.org/10.1002/ajmg.a.37346
van der Werf, I. M., Buiting, K., Czeschik, C., Reyniers, E., Vandeweyer, G., Vanhaesebrouck, P., Lüdecke, H.-J., Wieczorek, D., Horsthemke, B., Mortier, G., Leroy, J. G., & Kooy, R. F. (2016). Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome. European Journal of Human Genetics, 24(12), 1724-1729. https://doi.org/10.1038/ejhg.2016.82