Meckel-Gruber Syndrome Treatment & Management

1. Hartill V, Szymanska K, Sharif SM, Wheway G, Johnson CA. Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances. Front Pediatr. 2017. 5:244. [QxMD MEDLINE Link]. [Full Text].

2. Smith UM, Consugar M, Tee LJ, McKee BM, Maina EN, Whelan S. The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat Genet. 2006 Feb. 38(2):191-6. [QxMD MEDLINE Link].

3. Lu Y, Peng H, Jin Z, Cheng J, Wang S, Ma M, et al. Preimplantation Genetic Diagnosis for a Chinese Family with Autosomal Recessive Meckel-Gruber Syndrome Type 3 (MKS3). PLoS One. 2013 Sep 5. 8(9):e73245. [QxMD MEDLINE Link]. [Full Text].

4. Baala L, Audollent S, Martinovic J, Ozilou C, Babron MC, Sivanandamoorthy S. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet. 2007 Jul. 81(1):170-9. [QxMD MEDLINE Link].

5. Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet. 2007 Jul. 39(7):875-81. [QxMD MEDLINE Link].

6. Tallila J, Jakkula E, Peltonen L, Salonen R, Kestila M. Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. Am J Hum Genet. 2008 Jun. 82(6):1361-7. [QxMD MEDLINE Link]. [Full Text].

7. Online Mendelian Inheritance in Man. Meckel syndrome, type 7; MKS7. OMIM. Available at http://www.omim.org/entry/267010?search=mks7&highlight=mks7. Accessed: Aug 19, 2015.

8. Online Mendelian Inheritance in Man. Meckel syndrome, type 8; MKS8. OMIM. Available at http://www.omim.org/entry/613885?search=mks8&highlight=mks8. Accessed: Aug 19, 2015.

9. Online Mendelian Inheritance in Man. Meckel syndrome, type 9; MKS9. OMIM. Available at http://www.omim.org/entry/614209?search=mks9&highlight=mks9. Accessed: Aug 19, 2015.

10. Online Mendelian Inheritance in Man. Meckel syndrome, type 10; MKS10. OMIM. Available at http://www.omim.org/entry/614175?search=mks10&highlight=mks10. Accessed: Aug 19, 2015.

11. Online Mendelian Inheritance in Man. Meckel syndrome, type 11; MKS11. OMIM. Available at http://www.omim.org/entry/615397?search=mks11&highlight=mks11. Accessed: Aug 19, 2015.

12. Online Mendelian Inheritance in Man. Meckel syndrome 12; MKS12. OMIM. Available at http://www.omim.org/entry/616258?search=mks12&highlight=mks12. Accessed: Aug 19, 2015.

13. Barisic I, Boban L, Loane M, et al. Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe. Eur J Hum Genet. 2015 Jun. 23 (6):746-52. [QxMD MEDLINE Link].

14. Abdelhamed ZA, Wheway G, Szymanska K, Natarajan S, Toomes C, Inglehearn C, et al. Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects. Hum Mol Genet. 2013 Apr 1. 22(7):1358-72. [QxMD MEDLINE Link]. [Full Text].

15. Dowdle WE, Robinson JF, Kneist A, et al. Disruption of a ciliary B9 protein complex causes Meckel syndrome. Am J Hum Genet. 2011 Jul 15. 89(1):94-110. [QxMD MEDLINE Link]. [Full Text].

16. Weng RR, Yang TT, Huang CE, Chang CW, Wang WJ, Liao JC. Super-Resolution Imaging Reveals TCTN2 Depletion-Induced IFT88 Lumen Leakage and Ciliary Weakening. Biophys J. 2018 Jul 17. 115 (2):263-75. [QxMD MEDLINE Link].

17. Parelkar SV, Kapadnis SP, Sanghvi BV, Joshi PB, Mundada D, Oak SN. Meckel-Gruber syndrome: A rare and lethal anomaly with review of literature. J Pediatr Neurosci. 2013 May. 8(2):154-7. [QxMD MEDLINE Link]. [Full Text].

18. Shetty BP, Alva N, Patil S, Shetty R. Meckel-Gruber syndrome (dysencephalia splanchnocystica). J Contemp Dent Pract. 2012 Sep 1. 13(5):713-5. [QxMD MEDLINE Link].

19. Al-Belushi M, Al Ibrahim A, Ahmed M, Ahmed B, Khenyab N, Konje JC. A review of Meckel-Gruber syndrome--incidence and outcome in the state of Qatar. J Matern Fetal Neonatal Med. 2016. 29 (12):2013-6. [QxMD MEDLINE Link].

20. Wright C, Healicon R, English C, Burn J. Meckel syndrome: what are the minimum diagnostic criteria?. J Med Genet. 1994 Jun. 31(6):482-5. [QxMD MEDLINE Link].

21. Salonen R, Norio R. The Meckel syndrome in Finland: epidemiologic and genetic aspects. Am J Med Genet. 1984 Aug. 18(4):691-8. [QxMD MEDLINE Link].

22. Salonen R. The Meckel syndrome: clinicopathological findings in 67 patients. Am J Med Genet. 1984 Aug. 18(4):671-89. [QxMD MEDLINE Link].

23. Shaheen R, Szymanska K, Basu B, et al. Characterizing the morbid genome of ciliopathies. Genome Biol. 2016 Nov 28. 17 (1):242. [QxMD MEDLINE Link]. [Full Text].

24. Barker AR, Thomas R, Dawe HR. Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development. Organogenesis. 2014 Jan 1. 10 (1):96-107. [QxMD MEDLINE Link]. [Full Text].

25. Badano JL, Mitsuma N, Beales PL, Katsanis N. The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet. 2006. 7:125-48. [QxMD MEDLINE Link].

26. Paavola P, Salonen R, Weissenbach J. The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. Nat Genet. 1995 Oct. 11(2):213-5. [QxMD MEDLINE Link].

27. Morgan NV, Gissen P, Sharif SM, Baumber L, Sutherland J, Kelly DA. A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24. Hum Genet. 2002 Oct. 111(4-5):456-61. [QxMD MEDLINE Link].

28. Consugar MB, Kubly VJ, Lager DJ, Hommerding CJ, Wong WC, Bakker E. Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. Hum Genet. 2007 Jun. 121(5):591-9. [QxMD MEDLINE Link].

29. Frank V, den Hollander AI, Bruchle NO, Zonneveld MN, Nurnberg G, Becker C. Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. Hum Mutat. 2008 Jan. 29(1):45-52. [QxMD MEDLINE Link].

30. Behairy NH, Talaat S, Saleem SN, El-Raouf MA. Magnetic resonance imaging in fetal anomalies: What does it add to 3D and 4D US?. Eur J Radiol. 2009 Mar 24. [QxMD MEDLINE Link].

31. Eckmann-Scholz C, Jonat W, Zerres K, Ortiz-Brüchle N. Earliest ultrasound findings and description of splicing mutations in Meckel-Gruber syndrome. Arch Gynecol Obstet. 2012 Oct. 286(4):917-21. [QxMD MEDLINE Link].

Parul Bhagwati Jayakar, MD, MS, FACMG Director of Neurogenetics/Metabolic Program, Director of Cytogenetics Laboratory, Consultant in Clinical Genetics, Division of Genetics and Metabolism, Miami Children's Hospital; Assistant Professor, Genetics Residency Program Director, University of Miami, Leonard M Miller School of Medicine

Parul Bhagwati Jayakar, MD, MS, FACMG is a member of the following medical societies: American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Michail Spiliopoulos, MD Clinical Assistant Professor, Department of Obstetrics, Gynecology, and Reproductive Sciences, Temple University Hospital

Michail Spiliopoulos, MD is a member of the following medical societies: American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists

Disclosure: Nothing to disclose.

Anuj Jayakar Georgetown University School of Medicine

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Margaret M McGovern, MD, PhD Professor and Chair of Pediatrics, Stony Brook University School of Medicine

Margaret M McGovern, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Luis O Rohena, MD, PhD, FAAP, FACMG Deputy Chief, Department of Pediatrics, Chief, Medical Genetics, San Antonio Military Medical Center; Associate Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Associate Professor of Pediatrics, University of Texas Health Science Center at San Antonio

Luis O Rohena, MD, PhD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Christian J Renner, MD Consulting Staff, Department of Pediatrics, University Hospital for Children and Adolescents, Erlangen, Germany

Disclosure: Nothing to disclose.

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous authors Suzanne M Carter, MS, and Susan J Gross, MD, FRCS(C), FACOG, FACMG, to the original writing and development of this article.

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