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When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report
- Source :
- Diagnostics, Diagnostics, Vol 11, Iss 1636, p 1636 (2021)
- Publication Year :
- 2021
- Publisher :
- MDPI, 2021.
-
Abstract
- 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: MYH9, MYO7A and ACTG1. The thrombocytopenia in the child and her mother is explained by the MYH9 variant. The post-lingual HL in the paternal branch is explained by the MYO7A variant, absent in the proband, while the congenital HL of the child is explained by a de novo ACTG1 variant. This family, in which HL segregates, illustrates that multiple genetic conditions coexist in individuals and make patient care more complex than expected.
- Subjects :
- ACTG1
Proband
Medicine (General)
Pediatrics
medicine.medical_specialty
multiple diagnoses
MYO7A
Hearing loss
Clinical Biochemistry
Case Report
Neonatal Thrombocytopenia
MYH9
R5-920
otorhinolaryngologic diseases
Medicine
Severe Myopia
Exome sequencing
business.industry
Genetic heterogeneity
non-syndromic hearing loss
familial hearing loss
medicine.symptom
business
Subjects
Details
- Language :
- English
- ISSN :
- 20754418
- Volume :
- 11
- Issue :
- 9
- Database :
- OpenAIRE
- Journal :
- Diagnostics
- Accession number :
- edsair.doi.dedup.....3e999dd2dbf6ae34359d01bbadc58bdd