GDF3 gene


Gene (OMIM No.)
Function of gene/protein
  • Protein: growth differentiation factor 3
  • Part of the TGFβ superfamily
  • Involved in regulating growth and maturation of bone, cartilage and the retina
Clinical phenotype
(OMIM phenotype no.)
  • Klippel-Feil syndrome 3, autosomal dominant (#613702)
  • Microphthalmia with coloboma 6 (#613703)
  • Microphthalmia, isolated 7 (#613704)
  • Autosomal dominant
Ocular features
Systemic features
  • Klippel-Feil syndrome (verterbral segmentation defects leading to a fused appearance)
  • Lumbar and thoracic scoliosis
  • Rudimentray 12th rib
Key investigations
  • B-scan USS to measure axial length to document microphthalmia
  • Electrophysiology
  • MRI brain and orbit
  • Spine X-ray
  • Systemic assessment with a paediatrician and other relevant specialists
Molecular diagnosisNext generation sequencing
  • Targeted gene panels (MAC)
  • Whole genome sequencing
  • Multidisciplinary approach
Therapies under research
  • None at present
Further information

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Additional information

The p.Arg266Cys mutation in GDF3 results in intra- and interfamilial phenotypic variability, manifesting as ocular and/or skeletal abnormalities.

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  1.  Ducy P, Karsenty G. The family of bone morphogenetic proteins. Kidney Int. 2000;57(6):2207‐2214
  2.  Tracy MR, Dormans JP, Kusumi K. Klippel-Feil syndrome: clinical features and current understanding of etiology. Clin Orthop Relat Res. 2004;(424):183‐190
  3.  Ye M, Berry-Wynne KM, Asai-Coakwell M, et al. Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. Hum Mol Genet. 2010;19(2):287‐298

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Updated on November 30, 2020
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