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Korean J Pediatr > Volume 60(1); 2017 |
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Conflict of interest:
No potential conflict of interest relevant to this article was reported.
Gene | MIM number | Known function | Phenotypes |
---|---|---|---|
Microcephaly | |||
MCPH1 | *607117 | Encodes a regulator of chromosome condensation41) | Microcephaly 1 (AR) |
ASPM | *605481 | Encodes gene which is essential for normal mitotic spindle function in embryonic neuroblasts42) | Microcephaly 5 (AR) |
CENPJ | *609279 | Encodes a centrosomal protein with a putative role in regulation of microtubule assembly and nucleation43) | Microcephaly 6 (AR) |
WDR62 | *613583 | Encodes a protein that localizes to the centrosome and to the nucleus, depending on the cell phase and on the cell type44) | Microcephaly 2 (AR) with or without cortical malformation |
Abnormal neuronal migration | |||
PAFAH1B1 | *601545 | NDEL1 interacts with LIS1 to sustain the function of dynein, which in turn impacts microtubule organization, nuclear translocation, and neuronal positioning45) | Lissencephaly 1, subcortical band heterotopia |
DCX | *300121 | Microtubule associated protein, stabilizes microtubules against depolymerization32) | X-linked Lissencephaly, X-linked subcortical laminar heterotopia |
TUBA1A | *602529 | Encodes neuronal alpha1-tubulin32) | Lissencephaly 3; microcephaly and pachygyria; thick gyri |
NDE1 | *609449 | Encodes a protein with a role in mitosis; NDE1 and LIS1 (*601545) interact and are involved in cerebral cortical development14) | Lissencephaly 4 (with microcephaly) |
RELN | *600514 | Encodes reelin, a large secreted glycoprotein that activates a signaling pathway in postmitotic migrating neurons required for proper positioning of neurons within laminated nervous system parenchyma46) | Lissencephaly 2 (AR) |
TUBB3 | *602661 | Neuronal beta-tubulin isoforms47) | Cortical dysplasia, complex, with other brain malformations 1 (AD) |
FLNA | *300017 | Actin-binding protein that regulates reorganization of the actin cytoskeleton by interacting with integrins, transmembrane receptor complexes, and second messengers48) | Periventricular heterotopia (XLD) |
ARX | *300382 | Encodes the Aristaless-related homeobox protein, which belongs to the Aristalessrelated subset of the paired class of homeodomain proteins, which play crucial roles in cerebral development and patterning49) | Lissencephaly, infantile spasms, intellectual disability |
Abnormal postmigrational development | |||
FKRP | *606596 | Suggest a role in protein glycosylation, their enzyme activities have not yet been defined50) | Muscular dystrophy-dystroglycanopathy type A, B, C, 5 |
POMGnT1 | *606822 | O-mannose beta-1,2-N-acetylglucosaminyltransferase, participates in O-mannosyl glycan synthesis51) | Muscular dystrophy-dystroglycanopathy type A, B, C, 3 |
DYNC1H1 | *600112 | Dynein heavy-chain isoform52) | Microcephaly and pachygyria |
POMT1 | *607423 | Encodes protein O-mannosyltransferase, an enzyme that catalyzes O-mannosylation of proteins53) | Muscular dystrophy-dystroglycanopathy type A, B, C, 1 |
POMT2 | *607439 | Catalyze the first step in the synthesis of the O-mannosyl glycan found on alphadystroglycan54) | Muscular dystrophy-dystroglycanopathy type A, B, C, 2 |
LAMA1 | *150320 | Basement membrane protein composed of 3 nonidentical chains arranged in a cross-shaped structure55) | Posterior predominant COB, with congenital muscular dystrophy |
MIM, Mendelian Inheritance in Man (http://www.omim.org); AR, autosomal recessive; AD, autosomal dominant; XLD, X-linked dominant; COB, cobblestone malformation complex.
*This table is based on the information and description of Online Mendelian Inheritance in Man database.