Genetic Landscape of Masticatory Muscle Tendon-Aponeurosis Hyperplasia.

RNA-seq candidate genes masticatory muscle tendon–aponeurosis hyperplasia (MMTAH) whole genome sequencing

Journal

Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097

Informations de publication

Date de publication:
29 Aug 2023
Historique:
received: 31 07 2023
revised: 19 08 2023
accepted: 23 08 2023
medline: 28 9 2023
pubmed: 28 9 2023
entrez: 28 9 2023
Statut: epublish

Résumé

Limited mouth opening is a characteristic of masticatory muscle tendon-aponeurosis hyperplasia (MMTAH). Although genetic involvement is suspected where familial onset is frequently observed, the genetic background of MMTAH is yet to be elucidated. In this study, we conducted whole genome sequencing of 10 patients with MMTAH and their family members when available. We also conducted RNA sequencing of normal temporal tendon (as disease region) and Achilles tendon (as control region) from commercially available pig samples. We identified 51 genes that had rare variants in patients with MMTAH and were highly expressed in the temporal tendons of pigs. Among the 51 genes, 37 genes have not been reported to be causative for human genetic diseases so far. As an implication of genetic involvement in the pathogenesis of MMTAH, 21 of these 37 genes were identified in two independent families. In particular,

Identifiants

DOI: 10.3390/genes14091718 PMID: 37761858 PMC: PMC10530891
pubmed: 37761858
pii: genes14091718
doi: 10.3390/genes14091718
pmc: PMC10530891
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : Japan Society for the Promotion of Science
ID : 21H03137
Organisme : MEXT
ID : JPMJFS21

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Auteurs

Rina Tajima (R)

Department of Maxillofacial Surgery, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8549, Japan.
ORCID: 0000-0002-6577-1581

Atsuko Okazaki (A)

Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan.

Tsuyoshi Sato (T)

Department of Oral and Maxillofacial Surgery, Saitama Medical University, 38 Morohongou, Moroyama-machi, Iruma-gun 350-0495, Saitama, Japan.
ORCID: 0000-0002-1109-196X

Kokoro Ozaki (K)

Laboratory for Comprehensive Genomic Analysis, RIKEN Center for Integrative Medical Sciences, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama 230-0045, Kanagawa, Japan.
ORCID: 0000-0001-9081-8348

Daisuke Motooka (D)

Genome Information Research Center, Research Institute for Microbial Diseases, Osaka University, Suita 565-0871, Osaka, Japan.
Integrated Frontier Research for Medical Science Division, Institute for Open and Transdisciplinary Research Initiatives (OTRI), Osaka University, Suita 565-0871, Osaka, Japan.

Yasushi Okazaki (Y)

Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan.
Laboratory for Comprehensive Genomic Analysis, RIKEN Center for Integrative Medical Sciences, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama 230-0045, Kanagawa, Japan.
ORCID: 0000-0003-3241-5502

Tetsuya Yoda (T)

Department of Maxillofacial Surgery, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8549, Japan.

Classifications MeSH