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. Author manuscript; available in PMC: 2012 Jul 9.
Published in final edited form as: Am J Med Genet A. 2010 Apr;152A(4):846–855. doi: 10.1002/ajmg.a.33222

TABLE VI.

Candidate Genes on Chromosomes 6 and 10

Candidate gene Chromosome Description
EPHA7 6 Ligand involved in the repulsion of axonal growth cones and migrating cells
FUT9 6 Synthesizes the Lewis X oligosaccharide is expressed in organ buds during embryogenesis and is developmentally regulated. Functions in cell to cell interaction during neuronal development
MANEA 6 Secretory pathway glycosylation enzyme found in mitochondria
CHUK 10 Essential for NFKB activation during limb and craniofacial development
CRTAC1 10 An extracellular matrix protein expressed in bone, cartilage, and cultured chondrocytes
CSPG6 10 Chondroitin sulfate proteoglycan
FBXW4 10 Involved in signaling pathways crucial for normal limb development/split-hand/foot malformation
FER1L3 10 Connected to muscular dystrophies
HABP2 10 Glycosaminoglycan that is present in the extracellular matrix, connective tissue, cartilage, bone marrow, and synovial fluid
HTR7 10 Serotonin receptor, regulatory effects on osteoclast development
KAZALD1 10 Promotes proliferation of osteoblastic cells
LBX1 10 Expressed during embryogenesis, expression restricted to developing CNS and muscles
LOXL4 10 Cross-linking of collagen fibrils and insoluble elastic fibers in ECM, expressed in hypertrophic/calcified chondrocytes/growth plates
NFKB2 10 Bone development/knockout mouse model of osteopetrosis due to a defect in osteoclast differentiation
NRAP 10 Giant myofibrillar proteins found within the sarcomeres of skeletal muscle
PLCE1 10 Initiate a cascade of intracellular responses that result in cell growth and differentiation and gene expression
SEMA4G 10 Belongs to the semaphorin family, axonal guidance, and development in the A/P axis between the doral and ventral margins of the trunk and tail (zebrafish)
SFRP5 10 Member of “frizzled” family of proteins/function as receptors for WNT genes
SL1T1 10 Play a critical role in central nervous system midline formation
SUFU 10 Part of the Sonic Hedgehog signaling pathway/neural tube development
TLL2 10 Structurally related to BMP-I/functions in ECM formation
WNT8 10 WNT genes encode intercellular signaling glycoproteins that play important roles in key processes of embryonic development such as mesoderm induction, specification of the embryonic axis, and patterning of the central nervous system, spinal cord, and limbs