PYCR1相关常染色体隐性皮肤松弛症患儿临床表现及遗传学特征分析

doi:10.3969/j.issn.1673-8640.2021.02.004

检验医学 ›› 2021, Vol. 36 ›› Issue (2): 135-139.DOI: 10.3969/j.issn.1673-8640.2021.02.004

• 基因组技术与罕见病诊治专题 • 上一篇下一篇

PYCR1相关常染色体隐性皮肤松弛症患儿临床表现及遗传学特征分析

吴文涌¹, 上官华坤¹, 陈瑞敏²()

1.福建医科大学临床医学部,福建福州 350004
2.福建医科大学附属福州儿童医院内分泌遗传代谢科,福建福州 350005

收稿日期:2020-05-26 出版日期:2021-02-28 发布日期:2021-02-28
通讯作者: 陈瑞敏，E-mail：Chenrm321@sina.com。
作者简介:吴文涌，男，1994年生，硕士，医师，主要从事内分泌遗传代谢相关疾病研究。
基金资助:
福州市临床重点专科建设项目（201610191）;福建医科大学附属福州儿童医院重点专科专项课题（ZD-2019.01）

Analysis of clinical manifestations and genetic characteristics of autosomal recessive cutis laxa caused by PYCR1 variants

WU Wenyong¹, SHANGGUAN Huakun¹, CHEN Ruimin²()

1. School of Clinical Medicine,Fujian Medical University,Fuzhou 350004,Fujian,China
2. Department of Endocrinology,Genetics and Metabolism,Fuzhou Children's Hospital of Fujian Medical University,Fuzhou 350005,Fujian,China

Received:2020-05-26 Online:2021-02-28 Published:2021-02-28
Contact: CHEN Ruimin，E-mail：Chenrm321@sina.com。

摘要/Abstract

摘要：

目的探讨PYCR1相关常染色体隐性皮肤松弛症（ARCL）患儿的临床表现及遗传学特点。方法收集1例PYCR1相关ARCL患儿的临床资料,对先证者及其父母行全外显子测序,并结合文献对ARCL的临床表现和遗传学特点进行分析。结果患儿身高81.7 cm（-2.48s）,体质量8.0 kg（-2.68s）,特殊面容,斜颈,胸腹壁静脉显露,躯体皮肤松弛、皱纹明显。既往有隐睾及腹股沟斜疝手术史。患儿PYCR1基因第4号外显子存在复合杂合变异（c.345delC/p.Arg115Glyfs*7和c.413G>A/p.Gly138Asp）,其中c.413G>A/p.Gly138Asp为尚无文献报道的新变异。文献已报道114例PYCR1相关ARCL,加上该例患儿共115例,主要临床表现为：早老外观,包括皮肤松弛[100%（84/84）]、皮肤皱纹明显[97.8%（88/90）]以及智力障碍、全面发育迟缓[95.2%（100/105）];骨关节异常,包括关节松弛[94.2%（65/69）]、骨密度降低[73.8%（45/61）]、拇指内收畸形[63.4%（26/41）]、髋关节脱位[59.6%（53/89）];特殊面容,包括三角脸[93.1%（27/29）]、小头畸形[72.6%（45/62）]、身材矮小[83.6%（51/61）]。结论患者临床表现为早老外观、关节松弛、智力障碍、全面发育迟缓、特殊面容和身材矮小时应考虑PYCR1相关ARCL。基因检测有助于确诊。

关键词: PYCR1基因, 常染色体隐性皮肤松弛症, 特殊面容, 智力障碍, 身材矮小

Abstract:

Objective To analyze the clinical manifestations and genetic characteristics of autosomal recessive cutis laxa（ARCL） caused by PYCR1 variants. Methods The clinical data of a patient with ARCL caused by PYCR1 variants were collected. The patient and his parents' blood samples were taken for whole exome sequencing. Clinical manifestations and genetic characteristics of ARCL were analyzed in combination with the literatures. Results The patient with a height of 81.7cm（-2.48s）and a weight of 8.0 kg（-2.68s）. Physical examination showed special facial features,torticollis,exposed thoracic and abdominal wall veins,obvious loose and wrinkled body skin. Previous history showed cryptorchidism and indirect inguinal hernia. WES identified compound heterozygous variants（c.345delC/p.Arg115Glyfs*7 and c.413G>A/p.Gly138Asp）of exon 4 in PYCR1 gene,among which c.413G>A/p.Gly138Asp was a new variant unreported. Combined with previously published data,115 cases of PYCR1-related ARCL mainly presented with skin laxity [100%（84/84）],obvious skin wrinkles [97.8%（88/90）],mental retardation or global developmental disabilities [95.2%（100/105）],joint relaxation [94.2%（65/69）],decreased bone density [73.8%（45/61）],clasped thumb [63.4%（26/41）],dislocation of hip joint [59.6%（53/89）],triangular face [93.1%（27/29）],microcephaly [72.6%（45/62）] and short stature [83.6%（51/61）]. Conclusion Patients presented with presenile appearance,mental retardation,global developmental disabilities,special facial features,short stature and joint relaxation should be considered for PYCR1-related ARCL. Genetic test aids to confirm diagnosis.

Key words: PYCR1 gene, Autosomal recessive cutis laxa, Special face, Intelligence disability, Short stature

中图分类号:

Q754

吴文涌, 上官华坤, 陈瑞敏. PYCR1相关常染色体隐性皮肤松弛症患儿临床表现及遗传学特征分析[J]. 检验医学, 2021, 36(2): 135-139.

WU Wenyong, SHANGGUAN Huakun, CHEN Ruimin. Analysis of clinical manifestations and genetic characteristics of autosomal recessive cutis laxa caused by PYCR1 variants[J]. Laboratory Medicine, 2021, 36(2): 135-139.

图/表 2

参考文献 20

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PYCR1相关常染色体隐性皮肤松弛症患儿临床表现及遗传学特征分析

Analysis of clinical manifestations and genetic characteristics of autosomal recessive cutis laxa caused by PYCR1 variants

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