Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child
Copyright © 2018 Elsevier Masson SAS. All rights reserved..
Amish nemaline myopathy (ANM) is a severe congenital form of NM, known to be fatal in early childhood due to pulmonary insufficiency. Homozygous mutation in TNNT1 was originally ascertained in an Older Amish community in 2000. To date, only five reports with six pathogenic variants in TNNT1 have been described in both Amish and non-Amish families. Here, we describe a 16-month old female from a small Mennonite community from Mexico, presenting with congenital hypotonia and dilated cardiomyopathy, with a novel homozygous deletion of 19q13.42 of about 11 kb in size, encompassing TNNT1 and TNNI3. Cardiomyopathy has not been observed in association with ANM in previous reports. Conversely, homozygous mutation in TNNI3 have been described with dilated cardiomyopathy. Our report underscores the consideration of contiguous gene deletion in children with ANM who present with congenital hypotonia and cardiomyopathy. The report also expands the known spectrum of non-Amish related ANM mutations to include homozygous multi-exonic TNNT1 deletion.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2019 |
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| Erschienen: |
2019 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:62 |
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| Enthalten in: |
European journal of medical genetics - 62(2019), 11 vom: 01. Nov., Seite 103567 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Streff, Haley [VerfasserIn] |
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| Links: |
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| Anmerkungen: |
Date Completed 06.02.2020 Date Revised 04.12.2021 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1016/j.ejmg.2018.11.001 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM290291968 |
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| 245 | 1 | 0 | |a Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child |
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| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2018 Elsevier Masson SAS. All rights reserved. | ||
| 520 | |a Amish nemaline myopathy (ANM) is a severe congenital form of NM, known to be fatal in early childhood due to pulmonary insufficiency. Homozygous mutation in TNNT1 was originally ascertained in an Older Amish community in 2000. To date, only five reports with six pathogenic variants in TNNT1 have been described in both Amish and non-Amish families. Here, we describe a 16-month old female from a small Mennonite community from Mexico, presenting with congenital hypotonia and dilated cardiomyopathy, with a novel homozygous deletion of 19q13.42 of about 11 kb in size, encompassing TNNT1 and TNNI3. Cardiomyopathy has not been observed in association with ANM in previous reports. Conversely, homozygous mutation in TNNI3 have been described with dilated cardiomyopathy. Our report underscores the consideration of contiguous gene deletion in children with ANM who present with congenital hypotonia and cardiomyopathy. The report also expands the known spectrum of non-Amish related ANM mutations to include homozygous multi-exonic TNNT1 deletion | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Amish nemaline myopathy (ANM) | |
| 650 | 4 | |a Dilated cardiomyopathy | |
| 650 | 4 | |a Homozygous contiguous gene deletion | |
| 650 | 4 | |a TNNI3 | |
| 650 | 4 | |a TNNT1 | |
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| 650 | 7 | |a Protein Serine-Threonine Kinases |2 NLM | |
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| 650 | 7 | |a TNNI3K protein, human |2 NLM | |
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| 700 | 1 | |a Colón, Athos G |e verfasserin |4 aut | |
| 700 | 1 | |a Adesina, Adekunle M |e verfasserin |4 aut | |
| 700 | 1 | |a Miyake, Christina Y |e verfasserin |4 aut | |
| 700 | 1 | |a Lalani, Seema R |e verfasserin |4 aut | |
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