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First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction |
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| Authors: | Francisca Díaz‐González Manuel Parrón‐Pajares Ana Barcia‐Ramirez Karen E. Heath |
| Affiliation: | 1. Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain;2. Skeletal dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain;3. Department of Radiology, Hospital Universitario la Paz, Madrid, Spain;4. Department of Pediatrics, Hospital Universitario Virgen de Valme, Sevilla, Spain;5. https://orcid.org/0000-0002-5816-7044;6. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, U753), Instituto Carlos III, Madrid, Spain;7. Karen E. Heath, INGEMM, IdiPAZ, Hospital Universitario la Paz, Paseo Castellana 261, 28046 Madrid, Spain. |
| Abstract: | Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) is an extremely rare autosomal recessive limb abnormality characterized by the fusion of third and fourth fingers. To date, only homozygous missense and frameshift mutations have been reported in BHLHA9 associated to MSSD. In this study, we report a patient who presented with clinical and radiological features of MSSD. A customized skeletal dysplasia NGS panel revealed the presence of two novel compounds heterozygous variants in BHLHA9: NM_001164405.1: c.[226A>T][269G>C]; p.[(Lys76*)][(Arg90Pro)]. Thus, this is the first case of MSSD in a nonconsanguineous family. |
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