Clinical Research

Late-onset pompe disease in Iran: A clinical and genetic report

Ferdos Nazari MD

Iranian Center of Neurological Research, Shariati Hospital, Tehran University of Medical Sciences, North Karegar Street, Tehran, 14114 Iran

Search for more papers by this author

Farnaz Sinaei MD,

Farnaz Sinaei MD

Iranian Center of Neurological Research, Shariati Hospital, Tehran University of Medical Sciences, North Karegar Street, Tehran, 14114 Iran

Search for more papers by this author

Yalda Nilipour MD,

Yalda Nilipour MD

Pediatric Pathology Research Center, Mofid Children Hospital, Shahid Beheshti Medical University, Tehran, Iran

Search for more papers by this author

Farzad Fatehi MD,

Farzad Fatehi MD

Iranian Center of Neurological Research, Shariati Hospital, Tehran University of Medical Sciences, North Karegar Street, Tehran, 14114 Iran

Search for more papers by this author

Berthold Streubel PhD,

Berthold Streubel PhD

Department of Obstetrics and Feto-Maternal Medicine, Medical University of Vienna, Vienna, Austria

Search for more papers by this author

Mahmoud Reza Ashrafi MD,

Mahmoud Reza Ashrafi MD

Children's Medical Center, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran

Search for more papers by this author

Omid Aryani MD,

Omid Aryani MD

Genetics Department, Special Medical Center, Tehran, Iran

Search for more papers by this author

Shahriar Nafissi MD,

Corresponding Author

Shahriar Nafissi MD

[email protected]

Iranian Center of Neurological Research, Shariati Hospital, Tehran University of Medical Sciences, North Karegar Street, Tehran, 14114 Iran

Correspondence to: S. Nafissi; e-mail: [email protected]Search for more papers by this author

Ferdos Nazari MD,

Ferdos Nazari MD

Iranian Center of Neurological Research, Shariati Hospital, Tehran University of Medical Sciences, North Karegar Street, Tehran, 14114 Iran

Search for more papers by this author

Farnaz Sinaei MD,

Farnaz Sinaei MD

Iranian Center of Neurological Research, Shariati Hospital, Tehran University of Medical Sciences, North Karegar Street, Tehran, 14114 Iran

Search for more papers by this author

Yalda Nilipour MD,

Yalda Nilipour MD

Pediatric Pathology Research Center, Mofid Children Hospital, Shahid Beheshti Medical University, Tehran, Iran

Search for more papers by this author

Farzad Fatehi MD,

Farzad Fatehi MD

Iranian Center of Neurological Research, Shariati Hospital, Tehran University of Medical Sciences, North Karegar Street, Tehran, 14114 Iran

Search for more papers by this author

Berthold Streubel PhD,

Berthold Streubel PhD

Department of Obstetrics and Feto-Maternal Medicine, Medical University of Vienna, Vienna, Austria

Search for more papers by this author

Mahmoud Reza Ashrafi MD,

Mahmoud Reza Ashrafi MD

Children's Medical Center, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran

Search for more papers by this author

Omid Aryani MD,

Omid Aryani MD

Genetics Department, Special Medical Center, Tehran, Iran

Search for more papers by this author

Shahriar Nafissi MD,

Corresponding Author

Shahriar Nafissi MD

[email protected]

Iranian Center of Neurological Research, Shariati Hospital, Tehran University of Medical Sciences, North Karegar Street, Tehran, 14114 Iran

Correspondence to: S. Nafissi; e-mail: [email protected]Search for more papers by this author

First published: 20 September 2016

https://doi.org/10.1002/mus.25413

Citations: 6

Share a link

Email
Wechat
Bluesky

ABSTRACT

Introduction

Pompe disease is characterized by absence or deficiency of acid α-glucosidase, and several causative mutations are known. In this study we report clinical and laboratory data in Iranian patients with late-onset Pompe disease (LOPD), focusing on population-specific mutations.

Methods

Clinical and laboratory data of 14 patients from 10 families with the diagnosis of LOPD were recorded. All had reduced enzyme activity on dried blood spot (DBS) analysis. Genetic investigation was performed to identify the underlying mutations.

Results

The age of onset ranged from <2 to 38 years. The clinical presentations were heterogeneous. Two siblings presented with foot drop. The most common mutation was c.(-32-13T>G). There were 4 novel mutations: c.(2040 + 2dup); c.(1650delG); c.(1837T>G); and c.(2596delG).

Conclusion

This is a comprehensive report of LOPD in Iranian patients. Distinct phenotypic and genotypic features in this population are highlighted. Muscle Nerve 55: 835–840, 2017

REFERENCES

1 Manganelli F, Ruggiero L. Clinical features of Pompe disease. Acta Myol 2013; 32: 82–84.
CAS PubMed Google Scholar
2 Herzog A, Hartung R, Reuser AJ, Hermanns P, Runz H, Karabul N, et al. A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations. Orphanet J Rare Dis 2012; 7: 35.
10.1186/1750-1172-7-35
PubMed Web of Science® Google Scholar
3 Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ, Barohn RJ, et al. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve 2012; 45: 319–333.
10.1002/mus.22329
PubMed Web of Science® Google Scholar
4Pompecenter.nl. http://cluster15.erasmusmc.nl/klgn/pompe/mutations.html?lang=en/. Accessed December 04, 2016.
Google Scholar
5 Fujimoto S, Manabe Y, Fujii D, Kozai Y, Matsuzono K, Takahashi Y, et al. A novel mutation of the GAA gene in a patient with adult-onset Pompe disease lacking a disease-specific pathology. Intern Med 2013; 52: 2461–2464.
10.2169/internalmedicine.52.0311
CAS PubMed Web of Science® Google Scholar
6 Esmer C, Becerra-Becerra R, Peña-Zepeda C, Bravo-Oro A. A novel homozygous mutation at the GAA gene in Mexicans with early-onset Pompe disease. Acta Myol 2013; 32: 95–99.
CAS PubMed Google Scholar
7 Al Jasmi F, Al Jumah M, Alqarni F, Al-Sanna'a N, Al-Sharif F, Bohlega S, et al. Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group. BMC Neurol 2015; 1: 205.
10.1186/s12883-015-0412-3
Web of Science® Google Scholar
8 American Association of Neuromuscular and Electrodiagnostic Medicine. Diagnostic criteria for late-onset (childhood and adult) Pompe disease. Muscle Nerve 2009; 40: 149–160.
10.1002/mus.21393
PubMed Web of Science® Google Scholar
9 Chien YH, Hwu WL, Lee NC. Pompe disease: early diagnosis and early treatment make a difference. Pediatr Neonatol 2013; 54: 219–227.
10.1016/j.pedneo.2013.03.009
PubMed Web of Science® Google Scholar
10 Vissing J, Lukacs Z, Straub V. Diagnosis of Pompe disease: muscle biopsy vs blood-based assays. JAMA Neurol 2013; 70: 923–927.
10.1001/2013.jamaneurol.486
PubMed Web of Science® Google Scholar
11 Mellies U, Lofaso F. Pompe disease: a neuromuscular disease with respiratory muscle involvement. Respir Med 2009; 103: 477–484.
10.1016/j.rmed.2008.12.009
PubMed Web of Science® Google Scholar
12 Hobson-Webb LD, Jones HN, Kishnani PS. Oropharyngeal dysphagia may occur in late-onset Pompe disease, implicating bulbar muscle involvement. Neuromuscul Disord 2013; 23: 319–323.
10.1016/j.nmd.2012.12.003
PubMed Web of Science® Google Scholar
13 Remiche G, Ronchi D, Magri F, Lamperti C, Bordoni A, Moggio M, et al. Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature. J Neurol 2014; 261: 83–97.
10.1007/s00415-013-7137-2
CAS PubMed Web of Science® Google Scholar
14 Oldfors A, DiMauro S. New insights in the field of muscle glycogenoses. Curr Opin Neurol 2013; 26: 544–553.
10.1097/WCO.0b013e328364dbdc
CAS PubMed Web of Science® Google Scholar
15 Filosto M, Todeschini A, Cotelli MS, Vielmi V, Rinaldi F, Rota S, et al. Non-muscle involvement in late-onset glycogenosis II. Acta Myol 2013; 32: 91–94.
CAS PubMed Google Scholar
16 Wens SC, Kroos MA, de Vries JM, Hoogeveen-Westerveld M, Wijgerde MG, van Doorn PA, et al. Remarkably low fibroblast acid alpha-glucosidase activity in three adults with Pompe disease. Mol Genet Metab 2012; 107: 485–489.
10.1016/j.ymgme.2012.09.003
CAS PubMed Web of Science® Google Scholar
17 Lim JA, Li L, Raben N. Pompe disease: from pathophysiology to therapy and back again. Front Aging Neurosci 2014; 6: 177.
10.3389/fnagi.2014.00177
CAS PubMed Web of Science® Google Scholar
18 Kroos M, Hoogeveen-Westerveld M, van der Ploeg A, Reuser AJ. The genotype–phenotype correlation in Pompe disease. Am J Med Genet C Semin Med Genet 2012; 160C: 59–68.
10.1002/ajmg.c.31318
CAS PubMed Web of Science® Google Scholar

Citing Literature

Volume55, Issue6

June 2017

Pages 835-840

Late-onset pompe disease in Iran: A clinical and genetic report

ABSTRACT

Introduction

Methods

Results

Conclusion

REFERENCES

Citing Literature

References

Information

About Wiley Online Library

Help & Support

Opportunities

Connect with Wiley

Late-onset pompe disease in Iran: A clinical and genetic report

ABSTRACT

Introduction

Methods

Results

Conclusion

REFERENCES

Citing Literature

References

Related

Information