Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism.
Journal
Journal of human genetics
ISSN: 1435-232X
Titre abrégé: J Hum Genet
Pays: England
ID NLM: 9808008
Informations de publication
Date de publication:
May 2023
May 2023
Historique:
received:
05
10
2022
accepted:
25
12
2022
revised:
22
12
2022
medline:
26
4
2023
pubmed:
12
1
2023
entrez:
11
1
2023
Statut:
ppublish
Résumé
TNNI2 at 11p15.5 encodes troponin I2, fast skeletal type, which is a member of the troponin I gene family and a component of the troponin complex. Distal arthrogryposis (DA) is characterized by congenital limb contractures without primary neurological or muscular effects. DA is inherited in an autosomal dominant fashion and is clinically and genetically heterogeneous. Exome sequencing identified a causative variant in TNNI2 [NM_003282.4:c.532T>C p.(Phe178Leu)] in a Japanese girl with typical DA2b. Interestingly, the familial study using Sanger sequencing suggested a mosaic variant in her healthy father. Subsequent targeted amplicon-based deep sequencing detected the TNNI2 variant with variant allele frequencies of 9.4-17.7% in genomic DNA derived from peripheral blood leukocytes, saliva, hair, and nails in the father. We confirmed a disease-causing variant in TNNI2 in the proband inherited from her asymptomatic father with its somatic variant. Our case demonstrates that careful clinical and genetic evaluation is required in DA.
Identifiants
pubmed: 36631501
doi: 10.1038/s10038-022-01117-x
pii: 10.1038/s10038-022-01117-x
doi:
Substances chimiques
Troponin I
0
TNNI2 protein, human
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
363-367Subventions
Organisme : Japan Agency for Medical Research and Development (AMED)
ID : JP22ek0109486
Organisme : Japan Agency for Medical Research and Development (AMED)
ID : JP22ek0109549
Organisme : Japan Agency for Medical Research and Development (AMED)
ID : JP22ek0109493
Informations de copyright
© 2023. The Author(s), under exclusive licence to The Japan Society of Human Genetics.
Références
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