Cammarata-Scalisi Francisco, Matysiak Uta, Willoughby Colin E, Ruzaike Gunda, Cárdenas Tadich Antonio, Araya Castillo Maykol, Zara-Chirinos Carmen, Bracho Ana, Avendaño Andrea, Jilani Houweyda, Callea Michele
Departamento of Pediatrics, Regional Hospital of Antofagasta, Antofagasta, Chile.
Department of Pediatrics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
J Pediatr Genet. 2021 Jul 26;12(4):339-341. doi: 10.1055/s-0041-1732474. eCollection 2023 Dec.
Spondylometaphyseal dysplasia Algerian type (MIM no.: 184253) is an uncommon autosomal dominant skeletal dysplasia caused by heterozygous mutations in the gene (MIM no.: 120140). In this case based review, we reported a 5-year-old boy with short stature, severe dorsolumbar scoliosis, lumbar hyperlordosis, short trunk, and severe genu valgum Radiological examination showed platyspondyly, irregular metaphyseal radiolucencies intermingled with radiodensities, and corner fractures. The patient has a c.3275G > A; p.Gly1092Asp mutation in exon 47 of the gene and a variant of unknown significance in c.1366-13C > A in intron 21. This latter sequence variant could partially or completely disrupt the natural splice acceptor site of intron 21/exon 22 in the gene leading to a potential modification of the phenotypic severity.
阿尔及利亚型脊椎干骺端发育不良（MIM编号：184253）是一种罕见的常染色体显性骨骼发育不良，由该基因（MIM编号：120140）的杂合突变引起。在本病例报告中，我们报道了一名5岁男孩，身材矮小，严重胸腰椎脊柱侧弯，腰椎前凸，躯干短小，严重膝外翻。影像学检查显示椎体扁平，干骺端不规则透亮区与致密影相间，以及角状骨折。该患者在该基因第47外显子中有一个c.3275G＞A；p.Gly1092Asp突变，在第21内含子中有一个意义不明的c.1366-13C＞A变异。后一种序列变异可能部分或完全破坏该基因第21内含子/第22外显子的天然剪接受体位点，导致表型严重程度的潜在改变。
