Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA; Baylor Genetics Laboratories, Houston, TX, 77030, USA.
Department of Pediatrics, Texas Tech University School of Medicine, Lubbock, TX, 79430, USA.
Department of Pathology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, 77030, USA.
Division of Cardiology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Electronic address: [email protected]
- Published Article
European journal of medical genetics
- Publication Date
Nov 01, 2019
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. Copyright © 2018 Elsevier Masson SAS. All rights reserved.
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The corresponding record at NLM can be accessed at https://www.ncbi.nlm.nih.gov/pubmed/30395933