Molecular Hematology-Oncology, Karaiskakio Foundation, Nicosia, Cyprus.
The Center for the Study of Haematological Malignancies, Nicosia, Cyprus.
Cold Spring Harb Mol Case Stud. 2022 Apr 28;8(3). doi: 10.1101/mcs.a006168. Print 2022 Apr.
Poland syndrome is a rare developmental disorder characterized by unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, accompanied with ipsilateral hand malformations. To date, no clear genetic cause has been associated with Poland syndrome, although familial cases have been reported. We report the employment of trio exome investigation and the identification of a heterozygous de novo pathogenic variant in the gene, a transcription factor associated with transcriptional repression during development, in a 14-yr-old boy with Poland syndrome. We further demonstrate by means of cDNA sequencing and western blot analysis that this variant results in exon 10 skipping and a lower concentration of the SFMBT1 wild-type protein. To our knowledge, the heterozygous pathogenic variant identified in association with this condition is novel as it has not been elsewhere described in the literature and it can be incorporated to the limited reported cases published.
波兰氏综合征是一种罕见的发育障碍，其特征是单侧、完全或部分缺失胸大肌（通常还有小肌），并伴有同侧手部畸形。迄今为止，虽然已有家族病例报道，但尚未明确与波兰氏综合征相关的遗传原因。我们报告了采用三父子外显子组研究，并在一名 14 岁患有波兰氏综合征的男孩中鉴定出一个与发育过程中的转录抑制相关的转录因子基因中的杂合性新生致病性变异。我们进一步通过 cDNA 测序和 Western blot 分析表明，该变异导致第 10 外显子跳跃和 SFMBT1 野生型蛋白浓度降低。据我们所知，与这种情况相关的杂合致病性变异是新颖的，因为它在文献中尚未有其他描述，并且可以加入到有限的已发表的报道病例中。
