When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report.
ACTG1
MYH9
familial hearing loss
multiple diagnoses
non-syndromic hearing loss
Journal
Diagnostics (Basel, Switzerland)
ISSN: 2075-4418
Titre abrégé: Diagnostics (Basel)
Pays: Switzerland
ID NLM: 101658402
Informations de publication
Date de publication:
07 Sep 2021
07 Sep 2021
Historique:
received:
19
08
2021
accepted:
04
09
2021
entrez:
28
9
2021
pubmed:
29
9
2021
medline:
29
9
2021
Statut:
epublish
Résumé
We describe a family with both hearing loss (HL) and thrombocytopenia, caused by pathogenic variants in three genes. The proband was a child with neonatal thrombocytopenia, childhood-onset HL, hyper-laxity and severe myopia. The child's mother (and some of her relatives) presented with moderate thrombocytopenia and adulthood-onset HL. The child's father (and some of his relatives) presented with adult-onset HL. An HL panel analysis, completed by whole exome sequencing, was performed in this complex family. We identified three pathogenic variants in three different genes:
Identifiants
pubmed: 34573976
pii: diagnostics11091636
doi: 10.3390/diagnostics11091636
pmc: PMC8465614
pii:
doi:
Types de publication
Case Reports
Langues
eng
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