NDLI: A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation.

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A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation.

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A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Ibrahim, Daniel M. Tayebi, Naeimeh Knaus, Alexej Stiege, Asita C. Sahebzamani, Afsaneh Hecht, Jochen Mundlos, Stefan Spielmann, Malte
Description	Country affiliation: Germany Author Affiliation: Ibrahim DM ( Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.); Tayebi N ( Max Planck Institute for Molecular Genetics, Berlin, Germany.); Knaus A ( Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.); Stiege AC ( Max Planck Institute for Molecular Genetics, Berlin, Germany.); Sahebzamani A ( Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.); Hecht J ( Max Planck Institute for Molecular Genetics, Berlin, Germany.); Mundlos S ( Department of Genetic Welfare Organization, Kerman, Iran.); Spielmann M ( Max Planck Institute for Molecular Genetics, Berlin, Germany.)
Abstract	Synpolydactyly (SPD) is a rare congenital limb disorder characterized by syndactyly between the third and fourth fingers and an additional digit in the syndactylous web. In most cases SPD is caused by heterozygous mutations in HOXD13 resulting in the expansion of a N-terminal polyalanine tract. If homozygous, the mutation results in severe shortening of all metacarpals and phalanges with a morphological transformation of metacarpals to carpals. Here, we describe a novel homozygous missense mutation in a family with unaffected consanguineous parents and severe brachydactyly and metacarpal-to-carpal transformation in the affected child. We performed whole exome sequencing on the index patient, followed by Sanger sequencing of parents and patient to investigate cosegregation. The DNA-binding ability of the mutant protein was tested with electrophoretic mobility shift assays. We demonstrate that the c.938C>G (p.313T>R) mutation in the DNA-binding domain of HOXD13 prevents binding to DNA in vitro. Our results show to our knowledge for the first time that a missense mutation in HOXD13 underlies severe brachydactyly with metacarpal-to-carpal transformation. The mutation is non-penetrant in heterozygous carriers. In conjunction with the literature we propose the possibility that the metacarpal-to-carpal transformation results from a homozygous loss of functional HOXD13 protein in humans in combination with an accumulation of non-functional HOXD13 that might be able to interact with other transcription factors in the developing limb.
File Format	HTM / HTML
ISSN	15524825
Issue Number	3
Journal	American Journal of Medical Genetics Part A
Volume Number	170
e-ISSN	15524833
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2016-03-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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