Vrečar Irena, Rudolf Gorazd, Peterlin Borut, Lovrecic Luca
Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Slajmerjeva 3, SI-1000 Ljubljana, Slovenia.
Mol Cytogenet. 2015 Oct 31;8:83. doi: 10.1186/s13039-015-0187-7. eCollection 2015.
X-linked recessive type chondrodysplasia punctata (CDPX1) is a congenital disorder of cartilage and bone development with typical findings of stippled epyphises, nasomaxillary hypoplasia and short distal phalanges in a male patient. Disease is caused due to the loss of arylsulfatase E activity and only 55 patients with genetically confirmed disease have been reported so far. In 60-75 % of all patients the mutation in ARSE gene is detected by sequence analysis and in further 25 % of patients Xp deletions or rearrangements are causative and may be identified by classical chromosome studies. We report on a male patient refered to clinical geneticist for congenital hearing loss and mild dysplastic signs, both phenotypic features being relatively unspecific and non suggestive of CDPX1 in first instance. Array comparative genomic hybridisation showed approximatelly 3 kb big deletion, spaning intron and exon 7 of arylsulfatase E gene located in Xp22.33. This explained the cause of hearing loss, being present in 26-89 % od CDPX1 patients, as well as additional non prominent skeletal characteristics described by geneticist in our patient - mild midface hypoplasia and mild brachytelephalangy. Reported case introduces different presenting clinical phenotype for CDPX1, emphasizing different expressivity in this disorder.
X连锁隐性型点状软骨发育不良（CDPX1）是一种软骨和骨骼发育的先天性疾病，男性患者具有典型的骨骺点状、鼻上颌发育不全和远端指骨短小的表现。该疾病是由于芳基硫酸酯酶E活性丧失所致，迄今为止仅报道了55例经基因确诊的病例。在所有患者中，60% - 75%通过序列分析检测到ARSE基因突变，另外25%的患者Xp缺失或重排是致病原因，可通过经典染色体研究加以识别。我们报告了一名因先天性听力损失和轻度发育异常体征转诊至临床遗传学家处的男性患者，这两种表型特征相对不具特异性，起初并不提示为CDPX1。阵列比较基因组杂交显示位于Xp22.33的芳基硫酸酯酶E基因的内含子和外显子7有约3 kb的大片段缺失。这解释了听力损失的原因，在26% - 89%的CDPX1患者中存在听力损失，也解释了我们患者中遗传学家所描述的其他不明显的骨骼特征——轻度面中部发育不全和轻度短指畸形。报告的病例介绍了CDPX1不同的临床表型，强调了该疾病的不同表达性。
