Carey Fineman Ziter syndrome

Carey Fineman Ziter syndrome
Autosomal recessive pattern is the inheritance manner of this condition
Classification and external resources
Specialty medical genetics

Carey Fineman Ziter syndrome is a rare genetic condition. Fewer than 10 cases have been reported in the literature.[1]

Symptoms and signs

Several features have been described in this syndrome. These include

Genetics

Mutations in the gene Myomaker (MYMK) have been shown to be responsible for this condition.[2] The gene is located on the long arm of chromosome 9 (9q34.2). Inheritance is autosomal recessive.

Pathogenesis

The Myomaker gene encodes a transmembrane protein that is found on the surface of muscle cells. Mutations in this protein result in failure of myoblast fusion.[2][3]

Diagnosis

Diagnosis is made by sequencing the MYMK gene.

Previously diagnosis could be made on clinical features, though brain anomalies could only be determined with an MRI.[4]

Differential diagnosis

Treatment

There is no curative treatment known. Management is supportive.

History

The condition was first described in 1982.[5]

References

  1. ↑ Dufke A, Riethmüller J, Enders H (2004). "Severe congenital myopathy with Möbius, Robin, and Poland sequences: new aspects of the Carey-Fineman-Ziter syndrome". Am J Med Genet A 127A(3):291-293
  2. 1 2 Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, Leppert M, Scholand MB, Grunseich C, Ferreira CR, Hartman T, Hayes IM, Morgan T, Markie DM, Fagiolini M, Swift A, Chines PS, Speck-Martins CE, Collins FS, Jabs EW, Bönnemann CG, Olson EN; Moebius Syndrome Research Consortium, Carey JC, Robertson SP, Manoli I, Engle EC. Collaborators: Andrews CV, Barry BJ, Hunter DG, Mackinnon SE, Shaaban S, Erazo M, Frempong T, Hao K, Naidich TP, Rucker JC, Zhang Z, Biesecker BB, Bonnycastle LL, Brewer CC, Brooks BP, Butman JA, Chien WW, Farrell K, FitzGibbon EJ, Gropman AL, Hutchinson EB, Jain MS, King KA, Lehky TJ, Lee J, Liberton DK, Narisu N, Paul SM, Sadeghi N, Snow J, Solomon B, Summers A, Toro C, Thurm A, Zalewski CK (2017). "A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome". Nat Commun 8:16077. doi: 10.1038/ncomms16077
  3. ↑ Hedberg-Oldfors C, Lindberg C, Oldfors A (2018). "Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy". Neurol Genet 4(4):e254. doi: 10.1212/NXG.0000000000000254
  4. ↑ "Carey-Fineman-Ziter syndrome". Orphanet. 2006. Retrieved 4 August 2018.
  5. ↑ Carey JC, Fineman RM, Ziter FA (1982). "The Robin sequence as a consequence of malformation, dysplasia, and neuromuscular syndromes". J Pediatr 101(5):858-864
Classification
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