Germline mosacism in Shprintzen-Goldberg syndrome

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 7, 2012, Pages 1574-1578

  Shanske, Alan L ^a   Goodrich, James T ^a   Ala Kokko, Leena ^b   Baker, Stuart ^b   Frederick, Barbara ^c   Levy, Brynn ^d  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^b Connective Tissue Gene Tests ^*  (United States)

^c Laboratory of Molecular and Cellular Biology of Hematopoiesis   (United States)

^d Surgeons of Columbia University ^*  (United States)

Author keywords

Chromosome 15; FBN1; Germline mosaicism; Shprintzen Goldberg syndrome; Tetrasomy; TGFBR1 2

Indexed keywords

ARTERY DISEASE; ARTICLE; CASE REPORT; CHILD; CHROMOSOME MOSAICISM; CLINICAL EXAMINATION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DISEASE ASSOCIATION; FEMALE; GALACTOSIALIDOSIS; GASTROSTOMY; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; GERM LINE; GERMLINE MOSAICISM; HEREDITY; HUMAN; HYPOVENTILATION; INTESTINE MALROTATION; MALE; NEWBORN; PHENOTYPE; POLYSOMNOGRAPHY; PRIORITY JOURNAL; SCHOOL CHILD; SLEEP APNEA SYNDROME; STOMACH FUNDOPLICATION; SUBCLAVIAN ARTERY; TRACHEOSTOMY; VELOCARDIOFACIAL SYNDROME;

ARACHNODACTYLY; CRANIOSYNOSTOSES; FACIES; FEMALE; GERM-LINE MUTATION; HUMANS; INFANT; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MOSAICISM; PHENOTYPE;

EID: 84862664875     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35388     Document Type: Article

References (32)

1. Ades LC, Morris LL, Power RG, Wilson M, Haan EA, Bateman JF, Milewicz DM, Sillence DO. 1995. Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome. Am J Med Genet 57: 565- 572.
2. Akutsu K, Morisaki H, Takeshita S, Sakamoto S, Tamori Y, Yoshimuta T, Yokoyama N, Nonogi H, Ogino H, Morisaki T. 2007. Phenotypic heterogeneity of Marfan-like connective tissue disorders associated with mutations in the transforming growth factor-beta receptor genes. Circ J 71: 1305- 1309.
3. Blennow E, Bui TH, Kristoffersson U, Vujic M, Anneren G, Holmberg E, Nordenskjold M. 1994. Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: Prevalence and characterization by fluorescence in situ hybridization. Prenat Diagn 14: 1019- 1028.
4. Boyles AL, Enterline DS, Hammock PH, Siegel DG, Slifer SH, Mehltretter L, Gilbert JR, Hu-Lince D, Stephan D, Batzdorf U, Benzel E, Ellenbogen R, Green BA, Kula R, Menezes A, Mueller D, Oro' JJ, Iskandar BJ, George TM, Milhorat TH, Speer MC. 2006. Phenotypic definition of Chiari type I malformation coupled with high-density SNP genome screen shows significant evidence for linkage to regions on chromosomes 9 and 15. Am J Med Genet A 140A: 2776- 2785.
5. Chen CP, Linn CC, Li YC, Chern SR, Lee CC, Chen WL, Lee MS, Wang W, Tzen CY. 2004. Clinical, cytogenetic, and molecular analyses of prenatally diagnosed mosaic tetrasomy for distal chromosome 15q and review of the literature. Prenat Diagn 24: 767- 773.
6. Depinet TW, Zackowski JL, Earnshaw WC, Kaffe S, Sekhon GS, Stallard R, Sullivan BA, Vance GH, Van Dyke DL, Willard HF, Zinn AB, Schwartz S. 1997. Characterization of neo-centromeres in marker chromosomes lacking detectable alpha-satellite DNA. Hum Mol Genet 6: 1195- 1204.
7. Greally MT, Carey JC, Milewicz DM, Hudgins L, Goldberg RB, Shprintzen RJ, Cousineau AJ, Smith WL Jr, Judisch GF, Hanson JW. 1998. Shprintzen-Goldberg syndrome: A clinical analysis. Am J Med Genet 76: 202- 212.
8. Hassed S, Shewmake K, Teo C, Curtis M, Cuniff C. 1997. Shprintzen-Goldberg syndrome with osteopenia and progressive hydrocephalus. Am J Med Genet 70: 450- 453.
9. Hu J, McPherson E, Surti U, Hasegawa SL, Gunawardena S, Gollin SM. 2002. Tetrasomy 15q25.3-qter resulting from an analphoid supernumerary marker chromosome in a patient with multiple anomalies and bilateral Wilms tumors. Am J Med Genet 113: 82- 88.
10. Huang B, Ning Y, Lamb AN, Sandlin CJ, Jamehdor M, Ried T, Bartley J. 1998. Identification of an unusual marker chromosome by spectral karyotyping. Am J Med Genet 80: 368- 372.
11. Jodicke A, Hahn A, Berthold LD, Scharbrodt W, Boker DK. 2006. Dysplasia of C-1 and craniocervical instability in patients with Shprintzen-Goldberg syndrome. J Neurosug 105: 238- 241.
12. Kosaki K, Takahashi D, Udaka T, Kosaki R, Matsumoto M, Ibe S, Isobe T, Tanaka Y, Takahashi T. 2006. Molecular pathology of Shprintzen-Goldberg syndrome. Am J Med Genet A 140A: 104- 108.
13. Kosztolanyi G, Weisenbach J, Mehes K. 1995. Syndrome of arachnodactyly, disturbance of cranial ossification, protruding eyes, feeding difficulties, and mental retardation. Am J Med Genet 58: 213- 216.
14. Levy B, Tegay D, Papenhausen P, Tepperberg J, Nahum O, Tsuchida T, Pletcher B, Ala-Kokko L, Frederick B, Hirschhorn K, Warburton P, Shanske AL. 2012. The contribution of aneusomy 15q26 to the etiology of the Shprintzen-Goldberg Syndrome. Genet Med (in press).
15. Mahjoubi F, Peters GB, Malafiej P, Shalhoub C, Turner A, Daniel A, Hill RJ. 2005. An analphoid marker chromosome inv dup(15)(q26.1qter), detected during prenatal diagnosis and characterized via chromosome microdissection. Cytogenet Genome Res 109: 485- 490.
16. Megarbane A, Hokayem N. 1998. Craniosynostosis and marfanoid habitus without mental retardation: Report of a third case. Am J Med Genet 77: 170- 171.
17. Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, Shendure J. 2009. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 461: 272- 276.
18. Okubo Y, Siddle K, Firth H, O'Rahilly S, Wilson LC, Willatt L, Fukushima T, Takahashi S, Petry CJ, Saukkonen T, Stanhope R, Dunger DB. 2003. Cell proliferation activities on skin fibroblasts from a short child with absence of one copy of the type 1 insulin-like growth factor receptor (IGF1R) gene and a tall child with three copies of the IGF1R gene. J Clin Endocrinol Metab 88: 5981- 5988.
19. Roback EW, Barakat AJ, Dev VG, Mbikay M, Chretien M, Butler MG. 1991. An infant with deletion of the distal long arm of chromosome 15 (q26.1-qter) and loss of insulin-like growth factor 1 receptor gene. Am J Med Genet 38: 74- 79.
20. Robinson PN, Neumann LM, Demuth S, Enders H, Jung U, Konig R, Mitalla B, Muller D, Muschke P, Pfeiffer L, Prager B, Somer M, Tinschert S. 2005. Shprintzen-Goldberg syndrome: Fourteen new patients and a clinical analysis. Am J Med Genet A 135A: 251- 262.
21. Rowe AG, Abrams L, Qu Y, Chen E, Cotter PD. 2000. Tetrasomy 15q25-qter: Cytogenetic and molecular characterization of an analphoid supernumerary marker chromosome. Am J Med Genet 93: 393- 398.
22. Saal HM, Bulas DI, Allen AF, Vezina LG, Walton D, Rosenbaum KN. 1995. Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull. Am J Med Genet 57: 573- 578.
23. Shprintzen RJ, Goldberg RB. 1982. A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias. J Craniofac Genet Dev Biol 2: 65- 74.
24. Sood S, Eldadah ZA, Krause WL, McIntosh I, Dietz HC. 1996. Mutation in fibrillin-1 and the marfanoid craniosynostosis (Shprintzen-Goldberg) syndrome. Nat Genet 12: 209- 211.
25. Stankiewicz P, Park SS, Inoue K, Lupski JR. 2001. The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP. Genome Res 11: 1205- 1210.
26. Stheneur C, Collod-Beroud G, Faivre L, Gouya L, Gilles S, Le Parc JM, Moura B, Attias D, Muti C, Sznajder M, Claustres M, Junien C, Baumann C, Cormier-Daire V, Rio M, Lyonnet S, Plauchu H, Lacombe D, Chevallier B, Londeau G, Boileau C. 2008. Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. Hum Mut 29: E284- E295.
27. Sugarman C, Vogel MW. 1981. Case report 76: Craniofacial and musculoskeletal abnormalities-A questionable connective tissue disease. Syndr Ident 7: 16- 17.
28. Tatton-Brown K, Pilz DT, Orstavik KH, Patton M, Barber JC, Collinson MN, Maloney VK, Huang S, Crolla JA, Marks K, Ormerod E, Thompson P, Nawaz Z, Lese-Martin C, Tomkins S, Waits P, Rahman N, McEntagart M. 2009. 15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q. Am J Med Genet A 149A: 147- 154.
29. Van den Ende A, Verschraegen-Spae MR, Van Roy N, Decaluwe W, De Praeter C, Speleman F. 1996. Mosaic tetrasomy 15q25-qter in a newborn infant with multiple anomalies. Am J Med Genet 63: 482- 485.
30. Van Lierde KM, Mortier G, Loeys B, Baudonck N, De Ley S, Marks LA, Van Borsel J. 2007. Overall intelligibility, language, articulation, voice and resonance characteristics in a child with Shprintzen-Goldberg syndrome. Int J Pediatr Otorhinolaryngol 71: 721- 728.
31. Van Steensel MAM, van Geel M, Parren LJMT, Schrander-Stumpel CTRM, Marcus-Soekarman D. 2008. Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2. Exp Dermatol 17: 362- 365.
32. Ventura M, Mudge JM, Palumbo V, Burn S, Blennow E, Pierluigi M, Giorda R, Zuffardi O, Archidiacono N, Jackson MS, Rocchi M. 2003. Neocentromeres in 15q24-26 map to duplicons which flanked an ancestral centromere in 15q25. Genome Res 13: 2059- 2068.