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Late‐onset pompe disease in Iran: A clinical and genetic report
Author(s) -
Nazari Ferdos,
Sinaei Farnaz,
Nilipour Yalda,
Fatehi Farzad,
Streubel Berthold,
Ashrafi Mahmoud Reza,
Aryani Omid,
Nafissi Shahriar
Publication year - 2017
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.25413
Subject(s) - disease , age of onset , medicine , pediatrics
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