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Published on: August 15, 2019
Radiological phenotyping in patients with SOX10 pathogenic variants: insights into neck, brain and temporal bones
F Gentile1, E Clement2, K Rajput2
1From the Department of Radiology (F.G., A.B., S.S., F.D.), Clinical Genetics (E.C.), Audiological Medicine (K.R.), Paediatric Otolaryngology (R.N.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom, Department of Mental and Physical Health and Preventive Medicine (F.G.), Advanced Medical and Surgical Sciences (L.U.), University of Campania "Luigi Vanvitelli", P.zza L. Miraglia 2 - 80138 Naples, Italy and Harvard Medical School Head and Neck Radiologist (A.J.), Massachusetts Eye and Ear, Massachusetts General Brigham, Boston, Massachusetts, USA. gentile.fra0@gmail.com.
Pathogenic SOX10 variants cause specific temporal bone, brain, and neck abnormalities in children. These imaging findings, including flattened cochlea and SCC dysplasia, aid in diagnosing SOX10-related disorders.
Area of Science:
- Neuroimaging
- Genetics
- Developmental Biology
Background:
- The SOX10 gene is crucial for neural crest development, impacting the temporal bone, nervous system, and melanocytes.
- SOX10 variants are associated with Waardenburg syndrome (WS), Kallmann syndrome (KS), and PCWH, a complex disorder involving neuropathy, leukodystrophy, WS, and Hirschsprung disease.
Purpose of the Study:
- To characterize the full spectrum of brain, temporal bone, and neck abnormalities in pediatric patients with SOX10 pathogenic variants.
- To identify syndromic associations related to these radiological findings.
Main Methods:
- Retrospective analysis of imaging (MRI, CT) and clinical data from 15 pediatric patients with confirmed SOX10 germline pathogenic variants.
- Systematic review by two pediatric neuroradiologists.
Main Results:
- All patients exhibited bilateral temporal bone abnormalities, including semicircular canal (SCC) dysplasia/hypoplasia and a characteristic "flattened cochlea".
- Olfactory bulb agenesis/hypoplasia was noted in most patients. Neck findings included parotid and lacrimal gland aplasia/hypoplasia.
- Clinical phenotypes ranged from sensorineural hearing loss (SNHL) to WS types II/IV and PCWH.
Conclusions:
- Pathogenic SOX10 variants strongly correlate with specific temporal bone malformations and other radiological findings, serving as diagnostic markers.
- The constellation of abnormalities reflects the shared neural crest origin and supports genetic testing for SOX10-related disorders.
- Early MRI identification of these features aids diagnosis, especially in children lacking classic syndromic signs, and guides patient management.
