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- Title
De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy.
- Authors
Tarailo‐Graovac, Maja; Zahir, Farah R.; Zivkovic, Irena; Moksa, Michelle; Selby, Kathryn; Sinha, Sunita; Nislow, Corey; Stockler‐Ipsiroglu, Sylvia G.; Sheffer, Ruth; Saada‐Reisch, Ann; Friedman, Jan M.; Karnebeek, Clara D. M.; Horvath, Gabriella A.
- Abstract
Background: Profiling the entire genome at base pair resolution in a single test offers novel insights into disease by means of dissection of genetic contributors to phenotypic features. Methods: We performed genome sequencing for a patient who presented with atypical hereditary sensory and autonomic neuropathy, severe epileptic encephalopathy, global developmental delay, and growth hormone deficiency. Results: Assessment of the variants detected by mapped sequencing reads followed by Sanger confirmation revealed that the proband is a compound heterozygote for rare variants within RETREG1 (FAM134B), a gene associated with a recessive form of hereditary sensory and autonomic neuropathy, but not with epileptic encephalopathy or global developmental delay. Further analysis of the data also revealed a heterozygous missense variant in DNM1L, a gene previously implicated in an autosomal dominant encephalopathy, epilepsy, and global developmental delay and confirmed by Sanger sequencing to be a de novo variant not present in parental genomes. Conclusions: Our findings emphasize the importance of genome‐wide sequencing in patients with a well‐characterized genetic disease with atypical presentation. This approach reduces the potential for misdiagnoses.
- Subjects
PITUITARY dwarfism; DEVELOPMENTAL delay; EXOMES; GENETIC disorders; RECESSIVE genes; NUCLEOTIDE sequencing; BASE pairs
- Publication
Molecular Genetics & Genomic Medicine, 2019, Vol 7, Issue 10, pN.PAG
- ISSN
2324-9269
- Publication type
Article
- DOI
10.1002/mgg3.961