TNFRSF11A-Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum

1. Spranger J, Albrecht C, Rohwedder HJ, Wiedemann HR. Dysosteosclerosis—a special form of generalized osteosclerosis. Fortschr

Geb Rontgenstr Nuklearmed. 1968;109(4):504–12.

2. Bonafe L, Cormier‐Daire V, Hall C, et al. Nosology and classification

of genetic skeletal disorders: 2015 revision. Am J Med Genet A.

2015;167(12):2869–92.

3. Houston CS, Gerrard JW, Ives EJ. Dysosteosclerosis. Am J

Roentgenol. 1978;130:988–91.

4. Elçioglu NH, Vellodi A, Hall CM. Dysosteosclerosis: a report of three

new cases and evolution of the radiological findings. J Med Genet.

2002;39:603–7.

5. Whyte MP, Wenkert D, McAlister WH, et al. Dysosteosclerosis

presents as an “Osteoclast‐Poor” form of osteopetrosis: comprehensive investigation of a 3‐year‐old girl and literature review. J

Bone Miner Res. 2010;25:2527–39.

6. Howaldt A, Nampoothiri S, Quell LM, et al. Sclerosing bone dysplasias

with hallmarks of dysosteosclerosis in four patients carrying mutations

in SLC29A3 and TCIRG1. Bone. 2019;120:495–503.

7. Turan S, Mumm S, Gottesman GS, et al. Dysosteosclerosis from a

unique mutation in SLC29A3. Bone Abstr. 2015;4:97.

8. Campeau PM, Lu JT, Sule G, et al. Whole‐exome sequencing

identifies mutations in the nucleoside transporter gene SLC29A3 in

dysosteosclerosis, a form of osteopetrosis. Hum Mol Genet.

2012;21:4904–9.

9. Guo L, Elcioglu NH, Karalar OK, et al. Dysosteosclerosis is also

caused by TNFRSF11A mutation. J Hum Genet. 2018;63:769–74.

10. Li J, Zeng L, Xie J, et al. Inhibition of osteoclastogenesis and bone

resorption in vitro and in vivo by a prenylflavonoid xanthohumol

from hops. Sci Rep. 2015;5:17605.

11. Qu YJ, Ge L, Bai JL, et al. p.Val19Glyfs*21 and p.Leu228* variants in

the survival of motor neuron 1 trigger nonsense‐mediated mRNA

decay causing the SMN1 PTC+ transcripts degradation. Mutat Res.

2017;806:31–8.

12. Hughes AE, Ralston SH, Marken J, et al. Mutations in TNFRSF11A,

affecting the signal peptide of RANK, cause familial expansile

osteolysis. Nat Genet. 2000;24:45–8.

13. Pangrazio A, Cassani B. Guerrini Matteo, et al. RANK‐dependent

autosomal recessive osteopetrosis: characterization of five new

cases with novel mutations. J Bone Miner Res. 2012;27:342–51.

14. Guerrini MM, Sobacchi C, Cassani B, et al. Human osteoclast‐poor

osteopetrosis with hypogammaglobulinemia due to TNFRSF11A

(RANK) mutations. Am J Hum Genet. 2008;83:64–76.

15. Spranger JW, Brill PW, Hall C, Nishimura G, Superti‐Furga A, Unger

S. Bone dysplasias : an atlas of genetic disorders of skeletal

development. 4th ed. New York: Oxford University Press; 2018.

16. Dougall WC, Glaccum M, Charrier K, et al. RANK is essential for

osteoclast and lymph node development. Genes Dev. 1999;13:2412–24.

17. Ikebuchi Y, Aoki S, Honma M, et al. Coupling of bone resorption and

formation by RANKL reverse signalling. Nature. 2018;561:195–200.

18. Guo L, Bertola RD, Takanohashi A, et al. Bi‐allelic CSF1R mutation

cause skeletal dysplasia of dysosteosclerosis‐Pyle disease spectrum and degenerative encephalopathy with brain malformation.

Am J Hum Genet. 2019;104(5):P925–35. DOI: 10.1016/j.ajhg.2019.

03.004.

19. Lemire EG, Wiebe S. Clinical and radiologic findings in an adult

male with dysosteosclerosis. Am J Med Genet A. 2008;146A:474–8.

TNFRSF11A‐ASSOCIATED

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Publication list

I Main papers

TNFRSF11A-associated dysosteosclerosis: a report of the second case and characterization of the

phenotypic spectrum.

Xue, J.Y., Wang, Z., Shinagawa, S., Ohashi, H., Otomo, N., Elcioglu, N.H., Nakashima, T., Nishimura,

G., Ikegawa, S. and Guo, L., :

Journal of Bone and Mineral Research Vol. 34, No. 10, Page 1873-1879. 2019

II Associate papers

SLC4A2 deficiency causes a new type of osteopetrosis.

Xue, J.Y., Grigelioniene, G., Wang, Z., Nishimura, G., Iida, A., Matsumoto, N., Tham, E., Miyake, N.,

Ikegawa, S. and Guo, L., :

Journal of Bone and Mineral Research. 2021. ahead of print.

Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial

extramedullary hematopoiesis.

Xue, J.Y., Simsek-Kiper, P.O., Utine, G.E., Yan, L., Wang, Z., Taskiran, E.Z., Karaosmanoglu, B.,

Imren, G., Gocmen, R., Nishimura, G., Matsumoto, N., Miyake, N., Ikegawa, S. and Guo, L., :

Journal of Human Genetics Vol. 66, No. 6, Page 607-611. 2021

Genetic disorders associated with the RANKL/OPG/RANK pathway

Xue, J.Y., Ikegawa, S. and Guo, L., :

Journal of Bone and Mineral Metabolism Vol. 39, No. 1, Page 45-53. 2021

The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins.

Xue, J.Y., Wang, Z., Smithson, S.F., Burren, C.P., Matsumoto, N., Nishimura, G., Ikegawa, S. and Guo,

L., :

Journal of Human Genetics Vol. 66, No. 4, Page 371-377. 2021

III Other papers

Differentiation of hypertrophic chondrocytes from human iPSCs for the in vitro modeling of

chondrodysplasias.

Pretemer, Y., Kawai, S., Nagata, S., Nishio, M., Watanabe, M., Tamaki, S., Alev, C., Yamanaka, Y.,

Xue, J.Y., Wang, Z., Fukiage, K., Tsukanaka, M., Futami, T., Ikegawa, S., and Toguchida, J., :

Stem Cell Reports Vol. 16, No. 3, Page 610-625. 2021

Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of

BMP-SMAD signaling.

Guo, L., Iida, A., Bhavani, G.S., Gowrishankar, K., Wang, Z., Xue, J.Y., Wang, J., Miyake, N.,

Matsumoto, N., Hasegawa, T., Iizuka, Y., Matsuda, M., Nakashima, T., Takechi, M., Iseki, S., Yambe,

S., Nishimura, G., Koseki, H., Shukunami, C., Girisha, K.M., and Ikegawa, S., :

Nature Communications Vol. 12, No. 1, Page 1-13.2021

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