1例软骨-毛发发育不全的临床及遗传学特征分析

doi:10.3969/j.issn.1674-8115.2021.02.026

上海交通大学学报(医学版) ›› 2021, Vol. 41 ›› Issue (2): 280-284.doi: 10.3969/j.issn.1674-8115.2021.02.026

• 病例报告 • 上一篇

1例软骨-毛发发育不全的临床及遗传学特征分析

杨奕(), 姜文君, 张惠文()

上海交通大学医学院附属新华医院上海市儿科医学研究所小儿内分泌与遗传代谢病研究室，上海 200092

收稿日期:2020-04-30 出版日期:2021-02-28 发布日期:2021-02-28
通讯作者: 张惠文 E-mail:yangyi02@xinhuamed.com.cn;zhanghuiwen@xinhuamed.com.cn
作者简介:杨奕（1991—），女，住院医师，硕士；电子信箱：yangyi02@xinhuamed.com.cn。
基金资助:
上海市教育委员会高峰高原学科建设计划(20152520)

Clinical and genetic analysis of one case of cartilage-hair hypoplasia

Yi YANG(), Wen-jun JIANG, Hui-wen ZHANG()

Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China

Received:2020-04-30 Online:2021-02-28 Published:2021-02-28
Contact: Hui-wen ZHANG E-mail:yangyi02@xinhuamed.com.cn;zhanghuiwen@xinhuamed.com.cn
Supported by:
Shanghai Municipal Education Commission—Gaofeng Clinical Medicine Grant Support(20152520)

摘要/Abstract

摘要：

患儿，女，以“显著矮身材”为首发症状。母孕期超声检查多次提示四肢偏短。患儿表现为毛发细软、稀疏、色浅，四肢偏短，影像学检查提示骨骺改变。全外显子基因测序检测阴性。进一步行Sanger测序检测到线粒体处理RNA的内切酶复合物RNA组分（RNA component of mitochondrial RNA processing endoribonuclease，RMRP）基因，一个非编码RNA基因，存在g.181G→A/g.255C→T复合杂合变异，g.255C→T为新发现的突变。软骨-毛发发育不全临床表现复杂，典型症状有助于诊断该病；特别是全外显子基因测序检测阴性时，应考虑该病并进行鉴别诊断；必要时完善一代测序（Sanger法）检测，以帮助确诊、评估预后及产前诊断。新发现的变异丰富了该病的基因谱。

关键词: 软骨-毛发发育不全, RMRP基因, 短肢性矮身材, 干骺端发育不良

Abstract:

The main symptom of a female pediatric patient was severely short stature. Ultrasound examinations during pregnancy showed that the limbs were short. The patient was characterized by sparse, fine, and silky hair and prenatal onset of disproportionate short-limb short stature. Radiographic findings showed metaphyseal dysplasia with epiphyseal in terminal femur and proximal tibia. Whole exon sequencing of DNA from peripheral blood was negative. However, sanger sequencing confirmed that the patient had carried g.181G→A/g.255C→T compound heterozygous variants of RNA component of mitochondrial RNA processing endoribonuclease (RMRP) gene, which is a non-coding RNA in human genome. The g.255C→T was a novel mutation. The clinical manifestations of cartilage-hair hypoplasia (CHH) are complex and typical symptoms can help diagnose the disease. CHH should be considered as a differential disease when whole exon sequencing was negative in patients with suspected bone disease. Sanger sequencing test can help confirm the diagnosis, contributing to evaluating the prognosis and prenatal diagnosis. Discovery of the novel variants has enriched the variant spectrum of CHH.

Key words: cartilage-hair hypoplasia, RMRP gene, short-limb short stature, metaphyseal dysplasia

中图分类号:

R596

杨奕, 姜文君, 张惠文. 1例软骨-毛发发育不全的临床及遗传学特征分析[J]. 上海交通大学学报(医学版), 2021, 41(2): 280-284.

Yi YANG, Wen-jun JIANG, Hui-wen ZHANG. Clinical and genetic analysis of one case of cartilage-hair hypoplasia[J]. JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE), 2021, 41(2): 280-284.

图/表 3

图1 先证者身高（A）及体质量（B）记录

Fig 1 Body length(A) and body weight(B) records of the proband

图2 先证者影像学检查Note:A. Bone ossification in the left hand taken at 5 years old. B?D. Anteroposterior position (AP) and lateral view showed metaphyseal dysplasia with epiphyseal in terminal femur and proximal tibia. E/F. AP and lateral view of the spine showed negative.

Fig 2 Radiographs of the proband

图3 家系RMRP基因Sanger测序峰图Note:A. RMRP gene Sanger sequencing of the proband carrying g.181G→A/g.255C→T compound heterozygous variants. B. RMRP gene Sanger sequencing of the father carrying g.181G→A heterozygous variants. C. RMRP gene Sanger sequencing of the mother carrying g.255C→T heterozygous variants. Arrows show the mutation sites.

Fig 3 RMRP gene Sanger sequencing of the family

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1例软骨-毛发发育不全的临床及遗传学特征分析

Clinical and genetic analysis of one case of cartilage-hair hypoplasia

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