Overlapping Diseases in a Brazilian Subject with Brain Calcification Linked to Novel Phenotypes
- 1 August 2020
- journal article
- research article
- Published by Springer Science and Business Media LLC in Journal of Molecular Neuroscience
- Vol. 70 (8), 1255-1256
- https://doi.org/10.1007/s12031-020-01534-7
Abstract
Primary familial brain calcification (PFBC) is a well-known genetic condition that has recently had a surge of autosomal recessive cases. We recently reported a case of autosomal recessive PFBC on a 54-year-old Brazilian patient with a novel homozygous variant on MYORG. Interestingly, that patient also had a series of uncommon signs and symptoms, including Hashimoto's thyroiditis, polyneuropathy, optic nerve head drusen (ONHD), and persistent anemia. We chose to perform whole exome sequencing (WES) to possibly detect other unknown genetic conditions that could explain the extra-neurological findings reported. WES confirmed the presence of the MYORG variant previously reported by us, and determined the presence of a heterozygous nonsense variant on HBB (c.118C > T, p.Q40*), defining a diagnosis of beta-thalassemia. Based on literature review, the new WES finding explains the persistent anemia and polyneuropathy shown by the patient, while still leaving the ONHD and autoimmune thyroiditis without a clear genetic link. This way, we propose that these novel clinical findings could be linked to MYORG, but still encourage further studies to evaluate this possibility.This publication has 11 references indexed in Scilit:
- Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcificationBrain, 2019
- MYORG Mutations: a Major Cause of Recessive Primary Familial Brain CalcificationCurrent Neurology and Neuroscience Reports, 2019
- Reply: New homozygous indel in MYORG linked to brain calcification, thyroidopathy and neuropathyBrain, 2019
- New homozygous indel in MYORG linked to brain calcification, thyroidopathy and neuropathyBrain, 2019
- Lack of Major Ophthalmic Findings in Patients with Primary Familial Brain Calcification Linked to SLC20A2 and PDGFBJournal of Molecular Neuroscience, 2019
- Optic Nerve Head Drusen: An UpdateNeuro-Ophthalmology, 2018
- Polyneuropathy and myopathy in beta-thalassemia major patientsAnnals of Hematology, 2018
- β-ThalassemiaGenetics in Medicine, 2017
- High-throughput discovery of novel developmental phenotypesNature, 2016
- Peripheral neuropathy in thalassemiaAnnals of Saudi Medicine, 2006