Mosaic UPD(7q)mat in a Patient with Silver Russell Syndrome

Overview

Journal Mol Cytogenet

Publisher Biomed Central

Specialty Biochemistry

Date 2017 Oct 28

PMID 29075327

Citations 5

Authors

Jiasun Su

Jin Wang

Xin Fan

Chunyun Fu

Shujie Zhang

Yue Zhang

Zailong Qin

Hongdou Li

Jingsi Luo

Chuan Li

Tingting Jiang

Yiping Shen

Affiliations

Soon will be listed here.

Abstract

Background: Silver-Russell syndrome (SRS) is one of the imprinting disorders characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry and characteristic facial features. ~ 10% of SRS cases are known to be associated with maternal uniparental disomy of chromosome 7 (UPD(7)mat). Mosaic maternal segmental UPD of 7q (UPD(7q)mat) is very rare, had only been described in one case before.

Case Presentation: We reported a second case of mosaic segmental UPD involving 7q. The patient presented with dysmorphic features including thin and short stature, triangular face, moderate protruding forehead, relative macrocephaly, fifth toe clinodactyly and irregular teeth, meeting the clinical diagnosed criteria of SRS. This case indicated that ~ 80% of mosaic UPD(7q)mat lead to the manifestation of main phenotypes of Silver-Russell syndrome.

Conclusions: Our case support the notion that there are genes control postnatal growth on long arm of chromosome 7 and indicate that ~ 80% of UPD(7q)mat mosaicism level was contributed to the SRS phenotype.

Citing Articles

Prenatal Detection of Silver-Russell Syndrome: A First Trimester Suspicion and Diagnostic Approach.

Galeva S, Diglio G, Stoilov B, Uchikova E, Pop L Medicina (Kaunas). 2025; 61(1).

PMID: 39859127 PMC: 11766647. DOI: 10.3390/medicina61010145.

Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome.

Boluda-Navarro M, Ibanez M, Liquori A, Franco-Jarava C, Martinez-Gallo M, Rodriguez-Vega H Front Immunol. 2021; 12:625591.

PMID: 33868243 PMC: 8044466. DOI: 10.3389/fimmu.2021.625591.

Maternal UPD of chromosome 7 in a patient with Silver-Russell syndrome and Pendred syndrome.

Zhang C, Hao S, Zhang Q, Liu F, Zhou B, Xuan F J Clin Lab Anal. 2020; 34(9):e23407.

PMID: 32666542 PMC: 7521231. DOI: 10.1002/jcla.23407.

DNA Methylation in the Diagnosis of Monogenic Diseases.

Cerrato F, Sparago A, Ariani F, Brugnoletti F, Calzari L, Coppede F Genes (Basel). 2020; 11(4).

PMID: 32224912 PMC: 7231024. DOI: 10.3390/genes11040355.

Homozygous Deletion of the Gene Caused by Interstitial Maternal Isodisomy in a Peruvian Child with Cystic Fibrosis.

Vasquez Sotomayor F, Abarca-Barriga H J Pediatr Genet. 2019; 8(3):147-152.

PMID: 31406621 PMC: 6688885. DOI: 10.1055/s-0039-1678682.

References

Azzi S, Salem J, Thibaud N, Chantot-Bastaraud S, Lieber E, Netchine I . A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome. J Med Genet. 2015; 52(7):446-53. PMC: 4501172. DOI: 10.1136/jmedgenet-2014-102979. View

Eggermann T, Gonzalez D, Spengler S, Arslan-Kirchner M, Binder G, Schonherr N . Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation. Pediatrics. 2009; 123(5):e929-31. DOI: 10.1542/peds.2008-3228. View

Reboul M, Tandonnet O, Biteau N, Belet-de Putter C, Rebouissoux L, Moradkhani K . Mosaic maternal uniparental isodisomy for chromosome 7q21-qter. Clin Genet. 2006; 70(3):207-13. DOI: 10.1111/j.1399-0004.2006.00664.x. View

Russo S, Mencarelli M, Cavalleri F, Selicorni A, Cogliati F, Larizza L . A fluorescent method for detecting low-grade 11patUPD mosaicism in Beckwith-Wiedemann syndrome. Mol Cell Probes. 2003; 17(6):295-9. DOI: 10.1016/j.mcp.2003.07.002. View

Begemann M, Spengler S, Kordass U, Schroder C, Eggermann T . Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation. Am J Med Genet A. 2012; 158A(2):423-8. DOI: 10.1002/ajmg.a.34412. View

Conlin L, Thiel B, Bonnemann C, Medne L, Ernst L, Zackai E . Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet. 2010; 19(7):1263-75. PMC: 3146011. DOI: 10.1093/hmg/ddq003. View

Bartholdi D, Krajewska-Walasek M, Ounap K, Gaspar H, Chrzanowska K, Ilyana H . Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes. J Med Genet. 2008; 46(3):192-7. DOI: 10.1136/jmg.2008.061820. View

Bilimoria K, Rothenberg J . Prenatal diagnosis of a trisomy 7/maternal uniparental heterodisomy 7 mosaic fetus. Am J Med Genet A. 2003; 118A(1):60-3. DOI: 10.1002/ajmg.a.10101. View

Bliek J, Maas S, Ruijter J, Hennekam R, Alders M, Westerveld A . Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS. Hum Mol Genet. 2001; 10(5):467-76. DOI: 10.1093/hmg/10.5.467. View

10.

Monk D, Wakeling E, Proud V, Hitchins M, Abu-Amero S, Stanier P . Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome. Am J Hum Genet. 2000; 66(1):36-46. PMC: 1288348. DOI: 10.1086/302717. View

11.

Chantot-Bastaraud S, Stratmann S, Brioude F, Begemann M, Elbracht M, Graul-Neumann L . Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction. Mol Cytogenet. 2017; 10:28. PMC: 5526280. DOI: 10.1186/s13039-017-0329-1. View

12.

Kotzot D . Maternal uniparental disomy 7 and Silver-Russell syndrome - clinical update and comparison with other subgroups. Eur J Med Genet. 2008; 51(5):444-51. DOI: 10.1016/j.ejmg.2008.06.001. View

13.

Fuke T, Mizuno S, Nagai T, Hasegawa T, Horikawa R, Miyoshi Y . Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome. PLoS One. 2013; 8(3):e60105. PMC: 3606247. DOI: 10.1371/journal.pone.0060105. View

14.

Riesewijk A, Hu L, Schulz U, Tariverdian G, Hoglund P, Kere J . Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses. Genomics. 1997; 42(2):236-44. DOI: 10.1006/geno.1997.4731. View

15.

SILVER H, KIYASU W, George J, DEAMER W . Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins. Pediatrics. 1953; 12(4):368-76. View

16.

Li H, Ji C, Zong X, Zhang Y . [Height and weight standardized growth charts for Chinese children and adolescents aged 0 to 18 years]. Zhonghua Er Ke Za Zhi. 2009; 47(7):487-92. View

17.

Flori E, Girodon E, Samama B, Becmeur F, Viville B, Girard-Lemaire F . Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome. Eur J Hum Genet. 2005; 13(9):1013-8. DOI: 10.1038/sj.ejhg.5201442. View

18.

Kotzot D . Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements. J Med Genet. 2001; 38(8):497-507. PMC: 1734925. DOI: 10.1136/jmg.38.8.497. View

19.

Yoshihashi H, Maeyama K, Kosaki R, Ogata T, Tsukahara M, Goto Y . Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome. Am J Hum Genet. 2000; 67(2):476-82. PMC: 1287191. DOI: 10.1086/302997. View

20.

Fuke-Sato T, Yamazawa K, Nakabayashi K, Matsubara K, Matsuoka K, Hasegawa T . Mosaic upd(7)mat in a patient with Silver-Russell syndrome. Am J Med Genet A. 2012; 158A(2):465-8. DOI: 10.1002/ajmg.a.34404. View