Phenotypic Variability of <i>MEGF10</i> Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population

Congenital myopathies are rare neuromuscular hereditary disorders that manifest at birth or during infancy and usually appear with muscle weakness and hypotonia. One of such disorders, early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD, OMIM: 614399, MIM: 612453), is a rare...

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Autores principales:	Mohammad AlMuhaizea, Omar Dabbagh, Hanan AlQudairy, Aljouhra AlHargan, Wafa Alotaibi, Ruba Sami, Rahaf AlOtaibi, Mariam Mahmoud Ali, Hindi AlHindi, Dilek Colak, Namik Kaya
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	<i>MEGF10</i> congenital myopathy novel variants splicing convex scoliosis butterfly vertebrae Genetics QH426-470
Acceso en línea:	https://doaj.org/article/9fcb860861b24a36ae417ec8d22c628e
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spelling	oai:doaj.org-article:9fcb860861b24a36ae417ec8d22c628e2021-11-25T17:41:56ZPhenotypic Variability of <i>MEGF10</i> Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population10.3390/genes121117832073-4425https://doaj.org/article/9fcb860861b24a36ae417ec8d22c628e2021-11-01T00:00:00Zhttps://www.mdpi.com/2073-4425/12/11/1783https://doaj.org/toc/2073-4425Congenital myopathies are rare neuromuscular hereditary disorders that manifest at birth or during infancy and usually appear with muscle weakness and hypotonia. One of such disorders, early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD, OMIM: 614399, MIM: 612453), is a rare autosomal recessive disorder caused by biallelic mutations (at homozygous or compound heterozygous status) in <i>MEGF10</i> (multiple epidermal growth factor-like domains protein family). Here, we report two unrelated patients, who were born to consanguineous parents, having two novel <i>MEGF10</i> deleterious variants. Interestingly, the presence of <i>MEGF10</i> associated EMARDD has not been reported in Saudi Arabia, a highly consanguineous population. Moreover, both variants lead to a different phenotypic onset of mild and severe types. Our work expands phenotypic features of the disease and provides an opportunity for genetic counseling to the inflicted families.Mohammad AlMuhaizeaOmar DabbaghHanan AlQudairyAljouhra AlHarganWafa AlotaibiRuba SamiRahaf AlOtaibiMariam Mahmoud AliHindi AlHindiDilek ColakNamik KayaMDPI AGarticle<i>MEGF10</i>congenital myopathynovel variantssplicingconvex scoliosisbutterfly vertebraeGeneticsQH426-470ENGenes, Vol 12, Iss 1783, p 1783 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	<i>MEGF10</i> congenital myopathy novel variants splicing convex scoliosis butterfly vertebrae Genetics QH426-470
spellingShingle	<i>MEGF10</i> congenital myopathy novel variants splicing convex scoliosis butterfly vertebrae Genetics QH426-470 Mohammad AlMuhaizea Omar Dabbagh Hanan AlQudairy Aljouhra AlHargan Wafa Alotaibi Ruba Sami Rahaf AlOtaibi Mariam Mahmoud Ali Hindi AlHindi Dilek Colak Namik Kaya Phenotypic Variability of <i>MEGF10</i> Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population
description	Congenital myopathies are rare neuromuscular hereditary disorders that manifest at birth or during infancy and usually appear with muscle weakness and hypotonia. One of such disorders, early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD, OMIM: 614399, MIM: 612453), is a rare autosomal recessive disorder caused by biallelic mutations (at homozygous or compound heterozygous status) in <i>MEGF10</i> (multiple epidermal growth factor-like domains protein family). Here, we report two unrelated patients, who were born to consanguineous parents, having two novel <i>MEGF10</i> deleterious variants. Interestingly, the presence of <i>MEGF10</i> associated EMARDD has not been reported in Saudi Arabia, a highly consanguineous population. Moreover, both variants lead to a different phenotypic onset of mild and severe types. Our work expands phenotypic features of the disease and provides an opportunity for genetic counseling to the inflicted families.
format	article
author	Mohammad AlMuhaizea Omar Dabbagh Hanan AlQudairy Aljouhra AlHargan Wafa Alotaibi Ruba Sami Rahaf AlOtaibi Mariam Mahmoud Ali Hindi AlHindi Dilek Colak Namik Kaya
author_facet	Mohammad AlMuhaizea Omar Dabbagh Hanan AlQudairy Aljouhra AlHargan Wafa Alotaibi Ruba Sami Rahaf AlOtaibi Mariam Mahmoud Ali Hindi AlHindi Dilek Colak Namik Kaya
author_sort	Mohammad AlMuhaizea
title	Phenotypic Variability of <i>MEGF10</i> Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population
title_short	Phenotypic Variability of <i>MEGF10</i> Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population
title_full	Phenotypic Variability of <i>MEGF10</i> Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population
title_fullStr	Phenotypic Variability of <i>MEGF10</i> Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population
title_full_unstemmed	Phenotypic Variability of <i>MEGF10</i> Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population
title_sort	phenotypic variability of <i>megf10</i> variants causing congenital myopathy: report of two unrelated patients from a highly consanguineous population
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/9fcb860861b24a36ae417ec8d22c628e
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Phenotypic Variability of <i>MEGF10</i> Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population

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