Rudenskaya G E, Dyomina N A, Bliznetz E A, Khlebnikova O V, Dadaly E L, Polyakov A V
Research Centre for Medical Genetics, Moscow, Russia.
Zh Nevrol Psikhiatr Im S S Korsakova. 2018;118(5):85-91. doi: 10.17116/jnevro20181185185.
Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant disorder caused by mutations in connexin 43 gene GJA1. Typical features are syndactyly of IV-V or III-V fingers with/without feet syndactyly, anomalies of eyes, teeth, hair and nose. In about 30% of patients neurological disorders appear later in life: progressive spastic paraparesis, neurogenic bladder/bowel, ataxia, white matter lesions on MRI. First Russian DNA-confirmed ODDD cases are presented: 4 unrelated families with 5 affected women age 10-59 yrs. In addition to typical congenital anomalies all patients had neurological symptoms (mainly spastic paraparesis) with different age of onset. In three cases, preliminary diagnoses were hereditary neurodegenerations, only in one patient ODDD was recognized earlier. In GJA1 gene three novel mutations were detected: c.400_402delAAG (in two families), с.461C>T (p.Thr154Ile) and с.94T>G (p.Phe32Val). De novo origin of mutations in three sporadic cases was proved by parent DNA testing; in the familial case, the mutation in elder patient also obviously occurred de novo.
眼牙指发育不全（ODDD）是一种由连接蛋白43基因GJA1突变引起的罕见常染色体显性疾病。典型特征包括IV-V或III-V指并指（伴或不伴足并指）、眼睛、牙齿、毛发和鼻子异常。约30%的患者在生命后期会出现神经系统疾病：进行性痉挛性截瘫、神经源性膀胱/肠道功能障碍、共济失调、MRI显示白质病变。本文介绍了俄罗斯首例经DNA确诊的ODDD病例：4个无血缘关系的家庭，共5名患病女性，年龄在10至59岁之间。除典型的先天性异常外，所有患者均有不同发病年龄的神经系统症状（主要为痉挛性截瘫）。3例患者初步诊断为遗传性神经退行性疾病，仅1例患者较早确诊为ODDD。在GJA1基因中检测到3个新突变：c.400_402delAAG（2个家庭）、c.461C>T（p.Thr154Ile）和c.94T>G（p.Phe32Val）。通过对父母的DNA检测证实了3例散发病例的突变是新发的；在家族病例中，老年患者的突变显然也是新发的。
