Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Am J Med Genet A. 2021 Oct;185(10):3104-3110. doi: 10.1002/ajmg.a.62378. Epub 2021 Jun 4.
Spondyloepimetaphyseal dysplasia (SEMD) is a group of genetic skeletal disorders characterized by disproportionate short stature, and varying degrees of vertebral, epiphyseal, and metaphyseal involvement of the skeleton. According to the Nosology and classification of genetic skeletal disorders 2019 revision, more than 20 types of SEMD have been identified, and SEMD with immune deficiency, EXTL3 type is one of the newcomers. Affected individuals display variable skeletal abnormalities and neurodevelopmental findings. Liver and kidney cysts have also been reported frequently. Patients may exhibit varying degrees of immune deficiency as well. To date, only 14 patients from 9 unrelated families with SEMD with immune deficiency, EXTL3 type have been reported in the literature. We report a new patient who is currently 15 years old in whom cystic liver lesions were detected in the prenatal period. Disproportionate short stature, mild developmental delay and a T NK B immunological profile were detected in the postnatal follow-up. Exome sequence analysis revealed a previously reported homozygous missense variant in exon 3 c.953C > T; p.(Pro318Leu) in EXTL3.
骨-软骨发育不良伴免疫缺陷（SEMD）是一组以不成比例的身材矮小为特征的遗传性骨骼疾病，伴有骨骼的不同程度的椎体、骨骺和干骺端受累。根据 2019 年遗传骨骼疾病分类和命名法修订版，已经确定了超过 20 种 SEMD，其中 EXTL3 型伴免疫缺陷的 SEMD 是新成员之一。受影响的个体表现出不同程度的骨骼异常和神经发育发现。肝脏和肾脏囊肿也经常被报道。患者也可能表现出不同程度的免疫缺陷。迄今为止，文献中仅报道了 9 个无关家族中的 14 例 EXTL3 型伴免疫缺陷的 SEMD 患者。我们报告了一例新患者，该患者目前 15 岁，在产前期间发现了囊性肝病变。在随后的随访中，发现了不成比例的身材矮小、轻度发育迟缓以及 TNK B 免疫特征。外显子组序列分析显示 EXTL3 基因外显子 3 c.953C>T; p.(Pro318Leu)存在先前报道的纯合错义变异。
