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Recurrent missense mutation of GDF5 (p.R438L) causes proximal symphalangism in a British family

World Journal of Orthopedics 2016年第12期7卷 839-842页

作者： Andreas Leonidou Melita Irving Simon Holden marcos katchburian Department of Traumaand Orthopaedic Surgery Maidstone and Tunbridge Wells NHSTrust Department of Clinical Genetics Guy’s and St Thomas’ NHS Foundation Trust Department of Clinical Genetics Addenbrookes Hospital

Proximal symphalangism(SYM1B)(OMIM 615298) is an autosomal dominant developmental disorder affecting joint fusion. It is characterized by variable fusions of the proximal interphalangeal joints of the hands,typically of the ring and little finger,with the thumb typically being spared. SYM1 is frequently associated with coalition of tarsal bones and conductive hearing loss. Molecular studies have identified two possible genetic aetiologies for this syndrome,NOG and GDF5. We herein present a British caucasian family with SYM1 B caused by a mutation of the GDF5 gene. A mother and her three children presented to the orthopaedic outpatient department predominantly for feet related problems. All patients had multiple tarsal coalitions and hand involvement in the form of either brachydactyly or symphalangism of the proximal and middle phalanx of the little fingers. Genetic testing in the eldest child and his mother identified a heterozygous missense mutation in GDF5 c.1313G>T(p.R438L),thereby establishing SYM1 B as the cause of the orthopaedic problems in this family. There were no mutations identified in the NOG gene. This report highlights the importance of thorough history taking,including a three generation family history,and detailed clinical examination of children with fixed planovalgus feet and other family members to detect rare skeletal dysplasia conditions causing pain and deformity,and provides details of the spectrum of problems associated with SYM1 B.

关键词： Proximal symphalangism GDF5

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