未经证实:Ehlers-Danlos综合征(EDS)2型脊柱畸形的临床特征与脊柱外端干发育不良伴关节松弛相似,1型(SEMDJL1)。他们有相似的临床表现和相似的遗传基础,两者均可由B3GALT6基因突变引起。因此,基因筛查和仔细的临床检查是鉴别诊断这两种疾病的关键。
未经证实:一个4个月大的男孩入院,以寻找发育迟缓的原因。临床检查显示孩子延误了,关节运动范围过大,卵圆孔未闭,并伴有皮肤老化;孩子被怀疑患有EDS。然而,与EDS不同,孩子的肌肉紧张正常,同时患有脊柱畸形,轻度后凸畸形,加宽右髋关节间隙,还有一张特殊的脸,关节松弛,和细长的手指,这是SEMDJL1的典型特征。基因分析显示B3GALT6基因中有两个可疑突变:c.808G>A(p。(G270S))和c.942G>C(p。(W314C)),通过分析他父母的基因,证实是复合杂合突变。该突变不包括在HGMD中,ClinVar,和其他突变数据库,因此是一个新发现的突变。
未经证实:使用临床和遗传分析,本研究首次报道1例EDS样SEMDJL1患者。在B3GALT6基因中发现了两个致病性突变:c.808G>A(p。(G270S))和c.942G>C(p。(W314C))。
UNASSIGNED: Ehlers-Danlos syndrome (EDS) spinal deformity type 2 has clinical features similar to those of spondyloepimetaphyseal dysplasia with joint laxity, type 1 (SEMDJL1). They have similar clinical manifestations and a similar genetic basis, both of which can be caused by mutations in the B3GALT6 gene. Hence, genetic screening and careful clinical examination are key to the differential diagnosis of these two diseases.
UNASSIGNED: A 4-month-old boy was admitted to our hospital in order to find the causes of developmental delay. The clinical examination revealed that the child was delayed, with an excessive range of motion of joints, patent foramen ovale, and was accompanied by skin aging; the child was suspected to have EDS. However, unlike EDS, the child had normal muscle tension, and at the same time had a spinal deformity, mild kyphosis, widened right hip joint space, as well as a special face, joint laxity, and slender fingers, which were typical characteristics of SEMDJL1. A gene analysis showed two suspicious mutations in the B3GALT6 gene: c.808G > A(p.(G270S)) and c.942G > C(p.(W314C)), which were verified to be compound heterozygous mutations by analyzing genes in his parents. This mutation was not included in the HGMD, ClinVar, and other mutation databases, and thus was a newly discovered mutation.
UNASSIGNED: Using the clinical and genetic analyses, this study reported a Chinese
case with EDS-like SEMDJL1 for the first time. Two pathogenic mutations were discovered in the B3GALT6 gene: c.808G > A(p.(G270S)) and c.942G > C(p.(W314C)).