Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations (original) (raw)

“…The range of eye phenotypes observed, including MAC, in several human cases of Mab21l2 mutations, 4,7,8 suggests different functions of Mab21l2 during development. Consistent with this assumption, our data show that the expression pattern of Mab21l2 in chick changes during development, from an initial broad expression throughout the newly formed optic vesicle to restricted expression in the GCL, INL, and ONL during stages of retinogenesis, and the development of ACs and HCs.…”

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“…[6][7][8] Other extraocular Mab21l2-deficient phenotypes are identified as intellectual disability, rhizomelic skeletal dysplasia, and hand and foot syndactyly. [6][7][8] The human Mab21l2 gene encodes a 41-kDa (kilodalton) nuclear protein similar to C. elegans mab-21 cell fate determining factor. 9 Several studies have shown that Mab21l2 is conserved between human and other vertebrate species, and is expressed in the eye, midbrain, branchial arches, limb buds, body wall, and umbilical cord.…”

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“…In vertebrates, the MAB-21 family proteins are conserved and showed 90% amino acid sequence similarity (13). Autosomal dominant missense mutations of MAB21L2 cause a different Mendelian disorder including isolated ophthalmological anomalies and an oculo-skeletal syndrome with intellectual disability (14)(15)(16). In mouse, during the embryonic development, Mab21l1 is expressed in the midbrain, branchial arch, spinal cord, limb buds, eyes and reproductive organs.…”

Section: Discussionmentioning