Journal
EUROPEAN JOURNAL OF MEDICAL GENETICS
Volume 58, Issue 8, Pages 387-391Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2015.06.003
Keywords
Rhizomelia; Anophthalmia; Intellectual disability; MAB21L2
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Funding
- MRC [MC_PC_U127561093, MC_U127561093] Funding Source: UKRI
- Medical Research Council [MC_PC_U127561093, MC_U127561093] Funding Source: Medline
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We describe a novel recognizable phenotype characterized by anophthalmia, a distinctive skeletal dysplasia and intellectual disability. Radiographic anomalies include severe rhizomelic shortness of the limbs and abnormal joint formation. Recent exome studies showed that these characteristics are part of the phenotypic spectrum of MAB21L2 gene mutations which cause a range of structural eye malformations such as microphthalmia/anophthalmia and ocular coloboma. The two unrelated individuals described here in detail are heterozygous carriers of the same de novo missense mutation c.151C > T (p.Arg51Cys) in MAB21L2. (C) 2015 Elsevier Masson SAS. All rights reserved.
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