GDF3 gene

Overview
Microphthalmia, anophthalmia, coloboma (MAC)
Additional information
References

Overview

Gene (OMIM No.)	GDF3 (#606522)
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)
Inheritance	Autosomal dominant
Ocular features	Microphthalmia, anophthalmia, coloboma (MAC) spectrum Foveal hypoplasia Optic disc hypoplasia
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 diagnosis	Next generation sequencing Targeted gene panels (MAC) Whole genome sequencing
Management	Ocular Management of MAC Systemic Multidisciplinary approach
Therapies under research	None at present
Further information	Medline Plus

Additional information

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

References

Ducy P, Karsenty G. The family of bone morphogenetic proteins. Kidney Int. 2000;57(6):2207‐2214
Tracy MR, Dormans JP, Kusumi K. Klippel-Feil syndrome: clinical features and current understanding of etiology. Clin Orthop Relat Res. 2004;(424):183‐190
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

Updated on November 30, 2020

Tagged: anophthalmia coloboma GDF3 Klippel-Feil syndrome MAC microphthalmia

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