Diagnosis of Smith-Magenis Syndrome in a Patient with Mental Retardation and Sleep Disturbance Confirmed by Multiplex Ligation-dependent Probe Amplification

Joowon Oh; Seungjae Lee; Kyung-A Lee; Jongha Yoo

doi:10.3343/lmo.2018.8.2.71

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Oh, Lee, Lee, and Yoo: Diagnosis of Smith-Magenis Syndrome in a Patient with Mental Retardation and Sleep Disturbance Confirmed by Multiplex Ligation-dependent Probe Amplification

Original Article

Lab Med Online 2018;8(2):71-74.

Published online: 19 April 2018

DOI: https://doi.org/10.3343/lmo.2018.8.2.71

Diagnosis of Smith-Magenis Syndrome in a Patient with Mental Retardation and Sleep Disturbance Confirmed by Multiplex Ligation-dependent Probe Amplification

Joowon Oh, M.D.¹, Seungjae Lee, M.D.¹, Kyung-A Lee, M.D.¹, Jongha Yoo, M.D.²

¹Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea

²Department of Laboratory Medicine, National Health Insurance Service Ilsan Hospital, Goyang, Korea

Corresponding author: Jongha Yoo Department of Laboratory Medicine, National Health Insurance Service Ilsan Hospital, 100 Ilsan-ro, Ilsandong-gu, Goyang 10444, Korea Tel: +82-31-900-0909, Fax: +82-31-900-0925, E-mail: jhyoo92@nhimc.or.kr

Accepted 16 October 2017 Revised 13 October 2017 Received 9 August 2017

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

REFERENCES

1.Smith AC., McGavran L., Robinson J., Waldstein G., Macfarlane J., Zonona J, et al. Interstitial deletion of (17)(p11.2p11.2) in nine patients. Am J Med Genet. 1986. 24:393–414.

2.Seranski P., Hoff C., Radelof U., Hennig S., Reinhardt R., Schwartz CE, et al. RAI1 is a novel polyglutamine encoding gene that is deleted in Smith-Magenis syndrome patients. Gene. 2001. 270:69–76.

3.Greenberg F., Guzzetta V., Montes de Oca-Luna R., Magenis RE., Smith AC., Richter SF, et al. Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet. 1991. 49:1207–18.

4.Acquaviva F., Sana ME., Della Monica M., Pinelli M., Postorivo D., Fontana P, et al. First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation. Am J Med Genet A. 2017. 173:231–8.

5.De Leersnyder H. Smith-Magenis syndrome. Handb Clin Neurol. 2013. 111:295–6.

6.Suk JH., Lee SG., Bae JC., Lee HJ., Kim SH. Two cases of Smith-Magenis syndrome with tetralogy of Fallot confrmed by FISH. Korean J Lab Med. 2005. 25:361–4.

7.Jung SK., Park KH., Shin HK., Eun SH., Eun BL., Yoo KH, et al. Two cases of Smith-Magenis syndrome. Korean J Pediatr. 2009. 52:701–4.

8.Lee CG., Park SJ., Yun JN., Yim SY., Sohn YB. Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome. J Korean Med Sci. 2012. 27:1586–90.

9.Kim SE., Kim G., Suh JS., Lee J. A case of Smith-Magenis syndrome with multiple organ malformations. Neonatal Med. 2017. 24:49–52.

10.Allanson JE., Greenberg F., Smith AC. The face of Smith-Magenis syndrome: a subjective and objective study. J Med Genet. 1999. 36:394–7.

11.Vilboux T., Ciccone C., Blancato JK., Cox GF., Deshpande C., Introne WJ, et al. Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion. PLoS One. 2011. 6:e22861.

12.Belligni EF., Biamino E., Molinatto C., Messa J., Pierluigi M., Faravelli F, et al. Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability. Ital J Pediatr. 2009. 35:9.

13.Jehee FS., Takamori JT., Medeiros PF., Pordeus AC., Latini FR., Bertola DR, et al. Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries. Eur J Med Genet. 2011. 54:e425–32.

14.Miller DT., Adam MP., Aradhya S., Biesecker LG., Brothman AR., Carter NP, et al. Consensus statement: chromosomal microarray is a frst-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010. 86:749–64.

15.Regier DA., Friedman JM., Marra CA. Value for money? Array genomic hybridization for diagnostic testing for genetic causes of intellectual disability. Am J Hum Genet. 2010. 86:765–72.

Fig. 1.

(A) MLPA analysis (red: control, blue: patient) results reveal heterozygous deletion of DRC3, LLGL1, RAI1 gene on 17p11.2. (B) Confirm test covering more loci reveals heterozygous deletion of COPS3, RAI1, MIR33B, TOM1L2 gene on 17p11.2. Abbreviation: MLPA, Multiplex ligation-dependent probe amplification. ∗The name of the Leucine-rich repeat-containing protein 48 (LRRC48) gene has been changed to DRC3; ^†,‡RAI1 P and RAI1 PRO are different sets of primers of RAI1 gene. The names are randomly added with P and PRO as the analysis software requires different names with matching primers.

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