Department of Health, HKSAR, Clinical Genetic Service, Hong Kong, Hong Kong.
Am J Med Genet A. 2021 Jun;185(6):1925-1931. doi: 10.1002/ajmg.a.62164. Epub 2021 Mar 11.
Variants of the diphthamide biosynthesis I (DPH1, OMIM*603527) are associated with developmental delay, short stature, and sparse hair syndrome (DEDSSH/DPH1 syndrome) (OMIM# 616901). Another name is Loucks-Innes syndrome. DPH1 syndrome is an ultrarare and severe neurodevelopmental disorder. Less than 20 patients were reported from different ethnicities. Here, we described the first Chinese adult with genetically confirmed DPH1 syndrome. We summarized previously reported patients in the literature and found that developmental delay, unusual skull shape, sparse hair, and facial dysmorphism were consistently present in all DPH1 syndrome patients. Dysplastic toenails and dental abnormalities are age-dependent characteristics of DPH1 syndrome. Our patient was the first reported patient with documented growth hormone deficiency. Dental and endocrine checkup should be considered in the routine follow-up of DPH1 syndrome patients.
二氢喋啶生物合成 I 变体（DPH1，OMIM*603527）与发育迟缓、身材矮小和稀疏毛发综合征（DEDSSH/DPH1 综合征）（OMIM#616901）有关。另一个名称是卢克斯-英尼斯综合征。DPH1 综合征是一种超罕见且严重的神经发育障碍。来自不同种族的不到 20 名患者被报道。在这里，我们描述了首例经基因证实的 DPH1 综合征的中国成年人。我们总结了文献中之前报道的患者，发现所有 DPH1 综合征患者均存在发育迟缓、颅骨形状异常、毛发稀疏和面部畸形。发育不良的趾甲和牙齿异常是 DPH1 综合征的年龄依赖性特征。我们的患者是第一个有明确生长激素缺乏症记录的患者。在 DPH1 综合征患者的常规随访中，应考虑进行牙齿和内分泌检查。
