Status dystonicus, hyperpyrexia, and acute kidney injury in a patient with <i>SOX2</i>‐anophthalmia syndrome

Martinez, Edmundo; Madsen, Erik

doi:10.1002/ajmg.a.61144

Cited by 1 publication

(1 citation statement)

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“…Intragenic variants are named using transcript NM_003106.3. Fifteen patients have been previously published (Driggers et al, 1999;Fantes et al, 2003;Gorman et al, 2016;Martinez & Madsen, 2019;Ragge et al, 2005;Schilter et al, 2013;Schneider et al, 2008Schneider et al, , 2009Zhou et al, 2008) (Table 1). All variants are available through ClinVar or the SOX2 LOVD database (https://databases.lovd.nl/shared/ genes/SOX2).…”

Section: Methodsmentioning

confidence: 99%

Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study

Amlie‐Wolf

Bardakjian

Kopinsky

et al. 2021

American J of Med Genetics Pt A

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SOX2 variants and deletions are a common cause of anophthalmia and microphthalmia (A/M). This article presents data from a cohort of patients with SOX2 variants, some of whom have been followed for 20+ years. Medical records from patients enrolled in the A/M Research Registry and carrying SOX2 variants were reviewed. Thirty‐seven patients were identified, ranging in age from infant to 30 years old. Eye anomalies were bilateral in 30 patients (81.1%), unilateral in 5 (13.5%), and absent in 2 (5.4%). Intellectual disability was present in all with data available and ranged from mild to profound. Seizures were noted in 18 of 27 (66.6%) patients, usually with abnormal brain MRIs (10/15, 66.7%). Growth issues were reported in 14 of 21 patients (66.7%) and 14 of 19 (73.7%) had gonadotropin deficiency. Genitourinary anomalies were seen in 15 of 19 (78.9%) male patients and 5 of 15 (33.3%) female patients. Patients with SOX2 nucleotide variants, whole gene deletions or translocations are typically affected with bilateral or unilateral microphthalmia and anophthalmia. Other associated features include intellectual disability, seizures, brain anomalies, growth hormone deficiency, gonadotropin deficiency, and genitourinary anomalies. Recommendations for newly diagnosed patients with SOX2 variants include eye exams, MRI of the brain and orbits, endocrine and neurology examinations. Since the clinical spectrum associated with SOX2 alleles has expanded beyond the originally reported phenotypes, we propose a broader term, SOX2‐associated disorder, for this condition.

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