A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation

作者：Horn Denise^*; Prescott Trine; Houge Gunnar; Braekke Kristin; Rosendahl Karen; Nishimura Gen; FitzPatrick David R; Spranger Juergen

来源：European Journal of Medical Genetics, 2015, 58(8): 387-391.

DOI：10.1016/j.ejmg.2015.06.003

• Rhizomelia
• Anophthalmia
• Intellectual disability
• MAB21L2

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.

• 出版日期2015-8
• 单位河北医科大学