Molecular study of Pompe disease in Egyptian infants

Abstract Background Pompe disease (PD) is a serious genetic disorder caused by deficiency of acid α-glucosidase (GAA) and subsequent glycogen accumulation inside lysosomes. This study included a cohort of 5 Egyptian infants (1–8 months old) with far lower than average normal GAA activity and clinica...

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Autores principales:	Mona Essawi, Nagham ElBagoury, Engy Ashaat, Wessam Sharaf-Eldin, Ekram Fateen
Formato:	article
Lenguaje:	EN
Publicado:	SpringerOpen 2021
Materias:	Pompe disease Acid α-glucosidase Molecular analysis Pseudodeficiency allele Medicine (General) R5-920 Genetics QH426-470
Acceso en línea:	https://doaj.org/article/80b1f9edba774b38a0beb7b458a44e09
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spelling	oai:doaj.org-article:80b1f9edba774b38a0beb7b458a44e092021-11-21T12:03:56ZMolecular study of Pompe disease in Egyptian infants10.1186/s43042-021-00203-72090-2441https://doaj.org/article/80b1f9edba774b38a0beb7b458a44e092021-11-01T00:00:00Zhttps://doi.org/10.1186/s43042-021-00203-7https://doaj.org/toc/2090-2441Abstract Background Pompe disease (PD) is a serious genetic disorder caused by deficiency of acid α-glucosidase (GAA) and subsequent glycogen accumulation inside lysosomes. This study included a cohort of 5 Egyptian infants (1–8 months old) with far lower than average normal GAA activity and clinical signs of PD in 4 of the 5 cases. The fifth case was discovered by newborn screening (NBS). Molecular analysis of the GAA gene was performed to confirm the diagnosis and identify the underlying mutation. Results The study identified the causative mutations [c.1193T > C (p.Leu398Pro), c.1134C > G (p.Tyr378) & c.1431del (p.Ile477Metfs43)] in 4 cases. However, molecular analysis reversed the expected pathologic state in the fifth infant, where his reduced enzymatic activity was related to the presence of pseudodeficiency allele c.868A > G (p.Asn290Asp) in addition to heterozygous disease-causing mutation c.2238G > C (p.Trp746Cys). Conclusion This study presents the first molecular analysis of GAA gene in Egypt and has thrown some light on the importance of PD molecular diagnosis to provide precise diagnosis and enable therapeutic commencement in affected subjects.Mona EssawiNagham ElBagouryEngy AshaatWessam Sharaf-EldinEkram FateenSpringerOpenarticlePompe diseaseAcid α-glucosidaseMolecular analysisPseudodeficiency alleleMedicine (General)R5-920GeneticsQH426-470ENEgyptian Journal of Medical Human Genetics, Vol 22, Iss 1, Pp 1-7 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Pompe disease Acid α-glucosidase Molecular analysis Pseudodeficiency allele Medicine (General) R5-920 Genetics QH426-470
spellingShingle	Pompe disease Acid α-glucosidase Molecular analysis Pseudodeficiency allele Medicine (General) R5-920 Genetics QH426-470 Mona Essawi Nagham ElBagoury Engy Ashaat Wessam Sharaf-Eldin Ekram Fateen Molecular study of Pompe disease in Egyptian infants
description	Abstract Background Pompe disease (PD) is a serious genetic disorder caused by deficiency of acid α-glucosidase (GAA) and subsequent glycogen accumulation inside lysosomes. This study included a cohort of 5 Egyptian infants (1–8 months old) with far lower than average normal GAA activity and clinical signs of PD in 4 of the 5 cases. The fifth case was discovered by newborn screening (NBS). Molecular analysis of the GAA gene was performed to confirm the diagnosis and identify the underlying mutation. Results The study identified the causative mutations [c.1193T > C (p.Leu398Pro), c.1134C > G (p.Tyr378) & c.1431del (p.Ile477Metfs43)] in 4 cases. However, molecular analysis reversed the expected pathologic state in the fifth infant, where his reduced enzymatic activity was related to the presence of pseudodeficiency allele c.868A > G (p.Asn290Asp) in addition to heterozygous disease-causing mutation c.2238G > C (p.Trp746Cys). Conclusion This study presents the first molecular analysis of GAA gene in Egypt and has thrown some light on the importance of PD molecular diagnosis to provide precise diagnosis and enable therapeutic commencement in affected subjects.
format	article
author	Mona Essawi Nagham ElBagoury Engy Ashaat Wessam Sharaf-Eldin Ekram Fateen
author_facet	Mona Essawi Nagham ElBagoury Engy Ashaat Wessam Sharaf-Eldin Ekram Fateen
author_sort	Mona Essawi
title	Molecular study of Pompe disease in Egyptian infants
title_short	Molecular study of Pompe disease in Egyptian infants
title_full	Molecular study of Pompe disease in Egyptian infants
title_fullStr	Molecular study of Pompe disease in Egyptian infants
title_full_unstemmed	Molecular study of Pompe disease in Egyptian infants
title_sort	molecular study of pompe disease in egyptian infants
publisher	SpringerOpen
publishDate	2021
url	https://doaj.org/article/80b1f9edba774b38a0beb7b458a44e09
work_keys_str_mv	AT monaessawi molecularstudyofpompediseaseinegyptianinfants AT naghamelbagoury molecularstudyofpompediseaseinegyptianinfants AT engyashaat molecularstudyofpompediseaseinegyptianinfants AT wessamsharafeldin molecularstudyofpompediseaseinegyptianinfants AT ekramfateen molecularstudyofpompediseaseinegyptianinfants
_version_	1718419255353933824

Molecular study of Pompe disease in Egyptian infants

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