Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain.
Skeletal dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain.
Am J Med Genet A. 2020 Apr;182(4):628-631. doi: 10.1002/ajmg.a.61480. Epub 2020 Jan 7.
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.
中轴性并指融合综合征伴指骨减少（MSSD）是一种极为罕见的常染色体隐性肢体异常，其特征是第三和第四指融合。迄今为止，仅在 BHLHA9 相关的 MSSD 中报道了纯合错义突变和移码突变。本研究报告了一名具有 MSSD 临床和影像学特征的患者。定制的骨骼发育不良 NGS 面板显示 BHLHA9 中存在两个新的复合杂合变异体：NM_001164405.1：c.[226A>T][269G>C]；p.[(Lys76*)][(Arg90Pro)]。因此，这是首例非近亲结婚家族的 MSSD 病例。
