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基因分析报告  Gene Analysis Report

样本编号: Sample number: 姓名: 黎正华 性别:
年龄: 29 岁 29 years old 样本类型: Sample type: 外周血 采样日期: Sampling date: 2023/08/29
送检单位: Submission Unit: 本院 送检医生: Examining doctor: 林志媝
分析项目: Analysis project: D002: 皮肤病基因检测 panelV3 D002: Skin disease gene detection panelV3
临床诊断: Clinical diagnosis: 1.遗传性大疱性表皮松解症 Hereditary epidermolysis bullosa
疾病表型: Disease phenotype: -
重点关注基因: Focus on genes: -
病史摘要: Medical history summary: 双胫前、足部反复水疱糜烂,趾甲萎缩,反复发作。 Recurrent blisters and erosions on the anterior lower legs and feet, nail atrophy, and recurrent episodes.
家族史摘要: Family history summary: -
检测方法: Detection method: 黎正华-高通量测序 Li Zhenghua-High-throughput Sequencing
家系临床信息: Family clinical information:
样本标记 Sample label 样本关系 Sample relationship 样本编号 Sample number 标准化后的 HPO 表型或疾病 Standardized HPO phenotype or disease
黎正华 本人 皮肤的异常起疱,表皮水疮,趾甲异常 Abnormal blistering of the skin, epidermal blisters, abnormal toenails
黎正华父亲 Li Zheng-hua's father 父亲 未收样 -
黎正华母亲 Lí Zhènghuá's mother 母亲 未收样 -
分析结果: Analysis results:

通过对疾病相关基因的测序分析, 发现与疾病表型相关的高度可疑变异
Through sequencing analysis of disease-related genes, highly suspicious variations associated with disease phenotype were discovered

一、 临床表型高度相关的基因变异: I. Gene variants highly correlated with clinical phenotypes:
基因
 Chromosome location
染色体
位置
 Transcript exon
转录本
外显子
 Nucleotides Amino acids
核苷酸
氨基酸
 Homozygous / Heterozygous
纯合/
杂合
 Normal person frequency
正常人频

ACMG Pathogenicity Analysis (Score)
ACMG 致病
性分析
(分值)
疾病/表型(遗传方式) Disease/Phenotype (Inheritance)
 Mutation Source
变异
来源
NM_0000
exon
68

c.5605G>C (p.Gly1869Arg)
c.5605G>C
(p.Gly1869Ar
het -

Pathogenic
Pathogeni

1. Epidermolysis bullosa simplex (AD, AR) 2. Dominant epidermolysis bullosa simplex (AD) 3. Recessive epidermolysis bullosa simplex (AR)
1.胫前营养不良性大疱性表皮松
解(AD,AR)
2.常染色体显性营养不良性大疱
性表松解AD)
3.常染色体隐性遗传营养不良性
大疱性表皮松解症(AR)
 Parents did not receive sample
父母
未收
chr3:4862
2360
NM_0000
exon
34

c.3994G>C (p.Gly1332Arg)
c.3994G>C
(p.Gly1332Ar
het -

Uncertain
Uncertain

1. Acrodermatitis enteropathica (AD, AR) 2. Dominant dystrophic epidermolysis bullosa (AD) 3. Recessive dystrophic epidermolysis bullosa (AR)
1.胫前营养不良性大疱性表皮松
解(AD,AR)
2.常染色体显性营养不良性大疱
性表松解(AD)
3.常染色体隐性遗传营养不良性
大疱性表皮松解症(AR)
 Parents have not received the sample
父母
未收
注: 预测: 蛋白功能预测软件 REVEL: D:有害;LD:可能有害;U:不确定;LB:可能良性;B:良性. spliceAI: T:影响煎接;F:不影响剪接. -:未知分值: 贝叶斯框架 Uncertain 位点分值及对应的致病性概率:
Note: Prediction: Protein Function Prediction Software REVEL: D: Damaging; LD: Likely Damaging; U: Uncertain; LB: Likely Benign; B: Benign. spliceAI: T: Affect Splicing; F: Do Not Affect Splicing. -: Unknown Score: Bayesian Framework Uncertain Site Score and Corresponding Pathogenicity Probability:
参考文献: Reference List:
[1]文献数据库已报道过与 Epidermolysis bullosa dystrophica 相关:Chen,et al.J Eur Acad Dermatol Venere ol,,,2022[PMID:36287101] ClinVar:Pathogenic/Likely pathogenic,not provided|Recessive dystrophic epiderm olysis bullosa
[1]The literature database has reported on Epidermolysis bullosa dystrophica-related: Chen, et al. J Eur Acad Dermatol Venere ol, 2022 [PMID:36287101] ClinVar: Pathogenic/Likely pathogenic, not provided|Recessive dystrophic epidermolysis bullosa
基因变异信息概述:发现COL7A1基因有2个杂合突变。c.5605G>C(p.Gly1869Arg):由于未收到父母样本, 未进行基因变异来源验证; c.3994G>C(p.Gly1332Arg): 由于未收到父母样本, 未进行基因变异来源验证。
Overview of genetic variation information: Two compound heterozygous mutations were found in the COL7A1 gene. c.5605G>C (p.Gly1869Arg): Due to not receiving parental samples, the origin of the genetic variation was not verified; c.3994G>C (p.Gly1332Arg): Due to not receiving parental samples, the origin of the genetic variation was not verified.

(1)基因变异信息详细解读: (1) Detailed interpretation of gene mutation information:

该样本分析到 基因有 2 个杂合突变: 在 5605 号核苷酸由鸟嘌呤 变为胞嘧啶 )的杂合突变, 导致第 1869 号氨基酸由甘氨酸变为精氨酸(p.Gly1869Arg)在 3994 号核苷酸由鸟嘌呤 G 变为胞嘧啶 C (c.3994G>C)的杂合突变, 导致第 1332 号氨基酸由甘氨酸变为精氨酸(p.Gly1332Arg)。ACMG 遗传变异信息详细解读如下:
The sample analysis found 2 heterozygous mutations in the gene: a heterozygous mutation at nucleotide 5605, where guanine is changed to cytosine , resulting in the substitution of glycine by arginine at amino acid 1869 (p.Gly1869Arg); and a heterozygous mutation at nucleotide 3994, where guanine G is changed to cytosine C (c.3994G>C), resulting in the substitution of glycine by arginine at amino acid 1332 (p.Gly1332Arg). The detailed ACMG interpretation of the genetic variant is as follows:
1)c.5605G>C(exon68,NM_000094.4),导致氨基酸改变 p.Gly1869Arg,为错义突变。
1)c.5605G>C (exon68, NM_000094.4), resulting in an amino acid change p.Gly1869Arg, which is a missense mutation.
根据 ACMG 指南,该变异初步判定为致病性变异(Pathogenic)PM2_Supporting+PM3_Strong+PP3_Strong:
According to the ACMG guidelines, this variant is preliminarily classified as a pathogenic variant (Pathogenic) PM2_Supporting+PM3_Strong+PP3_Strong
PM2_Supporting: 在正常人群数据库中的频率为-;
PM2_Supporting: The frequency in the normal population database is -;
PM3_Strong: 文献数据库已有该位点(Epidermolysis bullosa dystrophica)隐性遗传的病例报道, 变异标签为 DM (致病突变), ClinVar 数据库对该位点的致病性分析为 Pathogenic/Likely pathogenic,not provided|Recessive dystrophic epidermolysis bullosa ;
The literature database has reported cases of recessive inheritance of this locus (Epidermolysis bullosa dystrophica), and the variant label is DM (pathogenic mutation). The ClinVar database analyzes the pathogenicity of this locus as Pathogenic/Likely pathogenic, not provided|Recessive dystrophic epidermolysis bullosa
PP3_Strong: 生物信息学蛋白功能综合性预测软件 REVEL 预测结果为有害, SIFT、PolyPhen_2、
PP3_Strong: Bioinformatics Protein Function Comprehensive Prediction Software REVEL prediction result is harmful, SIFT, PolyPhen_2,
MutationTaster 、GERP+预测结果分别为有害、有害、有害、有害;
MutationTaster, GERP+ prediction results are all Damaging, Damaging, Damaging, Damaging
由于未收到父母样本, 未进行基因变异来源验证; Due to the lack of parental samples, the source of the genetic variation has not been verified
2)c.3994G>C(exon34,NM_000094.4),导致氨基酸改变 p.Gly1332Arg,为错义突变。
2)c.3994G>C (exon34, NM_000094.4), resulting in the amino acid change p.Gly1332Arg, is a missense mutation.
根据 ACMG 指南, 该变异初步判定为临床意义未明(Uncertain)PM2_Supporting+PM5+PP3:
According to the ACMG guidelines, this variant is preliminarily classified as Uncertain Significance (PM2_Supporting+PM5+PP3)
PM2_Supporting: 在正常人群数据库中的频率为-;
PM2_Supporting: The frequency in the normal population database is -;
PM5: 同一个密码子已有一个不同氨基酸变化的已知致病变异报道(c.3995G>A,p.Gly1332Asp);
PM5: There is a known pathogenic variant with a different amino acid change in the same codon (c.3995G>A, p.Gly1332Asp);
: 生物信息学蛋白功能综合性预测软件 REVEL 预测结果为可能有害, SIFT、PolyPhen 2、
: Bioinformatics protein function comprehensive prediction software REVEL prediction results are likely to be harmful, SIFT, PolyPhen 2,
MutationTaster 、GERP+预测结果分别为有害、有害、有害、有害;
MutationTaster, GERP+ prediction results are respectively harmful, harmful, harmful, harmful
文献数据库未有该位点的相关性报道,ClinVar 数据库无该位点致病性分析结果; 由于未收到父母样本, 未进行基因变异来源验证;
There are no relevant reports on this site in the literature database, and the ClinVar database does not have pathogenicity analysis results for this site; due to the lack of parental samples, the source of the genetic variation has not been verified
(2)疾病临床描述: (2) Clinical description of the disease:
基因:  Gene:
疾病:
1)胫前营养不良性大疱性表皮松解(OMIM:131850);AD,AR
Epidermolysis bullosa simplex, localized
疾病介绍:胫前营养不良性大疱性表皮松解是一种常染色显性遗传疾病。临床表现为胫前水疱发育成为痒疹样角化过度病变。该疾病主要影响胫前区部位, 少数也影响膝盖和其他皮肤部位。其他临床症状包括指甲营养不良、白色丘疹样皮肤病变以及无胫前优势的增生性疤痕。该疾病个体差异十分显著。临床表型: 皮肤异常; 角化过度; 瘙痒; 甲营养不良; 胫前起疱
Introduction to the disease: Non-Epidermolytic Palmoplantar Keratoderma is an autosomal dominant genetic disorder. The clinical manifestations include the development of pruritic hyperkeratotic lesions on the shins. The disease mainly affects the tibial region, and in some cases, the knees and other skin areas may also be involved. Other clinical symptoms include nail dystrophy, white papular skin lesions, and non-acral hypertrophic scarring. The disease exhibits significant individual variability. Clinical phenotype: Skin abnormalities; Hyperkeratosis; Pruritus; Nail dystrophy; Blisters on the shins.
2)常染色体显性营养不良性大疮性表皮松解(OMIM:131750);AD
Autosomal dominant epidermolytic hyperkeratosis (OMIM: 131750); AD

疾病介绍: 常染色体显性营养不良性大疱性表皮松解是一种临床异质性疾病, 临床表现为真皮表皮基底膜下出现组织分离。该疾病在临床上具有不同类型, 严重程度不一, 重者致残, 轻者仅有有限的局部疤痕, 并很少出现外部症状。临床表型: 粟丘疹; 萎缩性䩗痕; 指甲发育不良; 出生时发病; 皮肤的异常起疱; 甲营养不良
Epidermolysis bullosa simplex is a clinically heterogeneous disease characterized by tissue separation below the dermal-epidermal basement membrane. The disease has different clinical types with varying severity, with severe cases resulting in disability and milder cases exhibiting limited localized scarring and rarely external symptoms. Clinical manifestations include milia, atrophic scars, nail dystrophy, onset at birth, blistering of the skin, and nail dystrophy.
3)常染色体隐性遗传营养不良性大疱性表皮松解症 (OMIM: 226600); AR
Autosomal recessive inherited nutritional deficiency epidermolysis bullosa (OMIM: 226600); AR
疾病介绍: 常染色体隐性遗传营养不良性大疱性表皮松解症是一种严重的皮肤疾病, 从出生开始, 以皮肤基底膜下致密层水平的反复起泡为特征。这会导致手、脚和关节的伤疤和挛缩。患者还因粘膜受累而出现胃肠道狭窄, 这可能导致营养不良。受影响的个体患侵袭性鳞状细胞癌的风险增加(Christiano 等人, 1996 年; Varki 等人, 2007 年)。临床表型: 嘴巴狭窄; 结膜炎; 白内障; 角膜痙痕; 敏感性皮肤; 粟丘疹; 萎缩性㓔痕; 屈曲挛缩; 生长延迟; 脱发; 贫血; 吞咽困难; 便秘; 食管狭窄; 指甲发育不良; 鳞状细胞癌; 出生时发病; 连指手套状并指; 营养不良; 自发性食管穿孔; 牙釉质发育不全; 皮肤的异常起疱; 甲营养不良
Epidermolysis bullosa simplex, a severe skin disease characterized by recurrent blistering at the level of the basal lamina of the skin, starting from birth. This leads to scarring and contractures of the hands, feet, and joints. Patients also develop gastrointestinal strictures due to mucosal involvement, which may result in malnutrition. Affected individuals have an increased risk of developing invasive squamous cell carcinoma (Christiano et al., 1996; Varki et al., 2007). Clinical features include: oral strictures, conjunctivitis, cataracts, corneal scarring, sensitive skin, milia, atrophic scarring, flexion contractures, growth delay, alopecia, anemia, dysphagia, constipation, esophageal strictures, nail dystrophy, squamous cell carcinoma, onset at birth, mitten-like and fused digits, malnutrition, spontaneous esophageal perforation, enamel hypoplasia, blistering of the skin, and nail dystrophy.
临床建议:以上结论均为基因分析结果,仅供参考,请结合受检者的临床表现、家族史及其他检测结果综合分析。
Clinical recommendation: The above conclusions are all based on genetic analysis results, and are for reference only. Please analyze them comprehensively with the clinical manifestations, family history, and other test results of the person being tested.
检测项目信息: Inspection project information:
项目名称 Project Name 捕获探针 Capture probe 目标区域基因数 Target region gene count 目标区域长度 Target area length
 D002: Skin disease gene detection panelV3
D002:
皮肤病基因检测
panelV3

GenCap® Skin Disease Genetic Testing panel gene capture probe
GenCap®皮肤病基因检测 panel 基因捕获探
par
特殊设计: 更新时间: 2020-12-25 LMNA,LYST,SUV39H2 等基因特殊设计了 HGMD 报道的内含子、基因间和非编码区捕获探针。
Special design: Update time: 2020-12-25 LMNA, LYST, SUV39H2 and other genes have been specially designed with intron, intergenic and non-coding region capture probes reported in HGMD.
质控数据统计: Quality Control Data Statistics:
受检者 样本编号 Sample number 平均测序深度 Average sequencing depth 目标区域覆盖度 Coverage of target area
黎正华 591.02

方法学: Methodology:

测序分析 Sequence analysis

局限性: Limitations:

  1. 本检测项目只针对已知的与疾病相关的基因,一些尚未明确的基因不在检测范围内。
    This detection project only covers known genes associated with diseases, and some genes that are not yet clearly defined are not within the scope of the detection.
  2. 在数据分析时, 为保证数据分析的精确性, 目标区域内少部分测序质量过低的变异将被滤掉。鉴于当前医学检测技术水平的限制和受检者个体差异等原因, 本检测无法保证 100%的准确性以及 的成功率。该方法适用于所送检基因的外显子区(不包括启动子区等非编码区) 及外显子相邻 的内含子区中的点突变(检测准确率为 以上)小的缺失插入突变 (20bp 以内)(检测准确率为 以上)。 3. 对在捕获区域内的突变, 如其所在区域为高 GC 含量区, 高度重复序列区, 或者在基因组其它位置存在高度同源序列, 本方法可能存在一定的假阴性几率。部分基因存在高重复低复杂度区域或假基因,以致检测不能完全覆盖其所有外显子区,但总体覆盖度可达 以上。受捕获效率影响, 不同基因及外显子区段的覆盖度可能无法达到 。调控区及深度内含子区可能存在的致病性变异无法检测。
    During data analysis, to ensure the accuracy of the data analysis, a small portion of low-quality variants within the target region will be filtered out. Due to the limitations of current medical detection technology and individual differences of the testees, this test cannot guarantee 100% accuracy and a success rate. This method is applicable to point mutations (detection accuracy above ) and small deletions and insertions (20bp or less) (detection accuracy above ) in the exonic regions (excluding promoter regions and other non-coding regions) and the intronic regions adjacent to the exons of the genes being tested. 3. For mutations within the capture region, if the region has a high GC content, highly repetitive sequences, or there are highly similar sequences at other positions in the genome, this method may have a certain false-negative rate. Some genes have high-repeat low-complexity regions or pseudogenes, which may result in incomplete coverage of all their exonic regions, but the overall coverage can reach or more. Affected by capture efficiency, the coverage of different genes and exonic regions may not reach . Pathogenic variants in regulatory regions and deep intronic regions cannot be detected.
  3. 此检测方法可以分析到小片段缺失/插入变异, 对于更大范围内的缺失/重复, 也可以分析, 但可信度会降低, 需要另一种方法验证, 可提供参考结果; NGS 无法检测出所有拷贝数变异, 如果怀疑基因存在拷贝数变异, 可以进行针对性的 aCGH、SNP array 或 MLPA 分析。此外, 未进行 NGS 测序的家系样本不提供缺失重复结果。
    This detection method can analyze small fragment deletions/insertions, and can also analyze larger deletions/duplications, but the reliability will be reduced, and another method is needed for verification, which can provide reference results; NGS cannot detect all copy number variations, if there is a suspected copy number variation in the gene, targeted aCGH, SNP array or MLPA analysis can be performed. In addition, family samples that have not undergone NGS sequencing do not provide deletion and duplication results.
  4. 本方法不适于检测特殊类型变异(包括但不限于体细胞突变、深度内含子变异、动态突变、基因甲基化、假基因区域变异、复杂重组等,上述情形均为不适用于高通量检测的技术局限性范畴)。
    This method is not suitable for detecting special types of mutations (including but not limited to somatic mutations, deep intronic mutations, dynamic mutations, gene methylation, pseudogene region variations, complex rearrangements, etc., all of which are technical limitations that are not applicable to high-throughput detection).
  5. 限于目前人类对疾病认识水平的局限性, 如未检出能完全解释受检者临床表型的特定基因及致病变异位点, 并不能排除受检者存在某种遗传疾病的可能性, 因为某些疾病的发病可能与其它未知基因或本方法难以检测到、或无法确定的基因变异类型有关。
    Given the current limitations in human understanding of diseases, if specific genes and pathogenic variant sites that can fully explain the clinical phenotype of the test subject are not detected, it does not rule out the possibility that the test subject may have a genetic disease, as the onset of certain diseases may be related to other unknown genes or gene variation types that are difficult to detect or cannot be determined by this method.
  6. 实验室无法对医生或受检者提供的临床表型及临床怀疑疾病的真实性、准确性、全面性做出保证。由于临床表型和家族史提供不准确或不完善的样本, 存在报告位点提报不精准的风险。特定变异的遗传性是基于向实验室描述的家庭关系, 非母(源)性或非父(源)性的可能性未被排除。
    The laboratory cannot guarantee the authenticity, accuracy, and completeness of the clinical phenotypes and suspected clinical diseases provided by the doctor or the examinee. Due to inaccurate or incomplete clinical phenotypes and family histories, there is a risk of imprecise reporting of loci. The heritability of a specific variant is based on the family relationships described to the laboratory, and the possibility of non-maternal or non-paternal origin has not been excluded.

    注:
  7. 如果受检者检测到了自发变异位点,该种情况下并不排除父母生殖腺镶嵌体突变的情况存在,建议遗传咨询。
    If the subject is found to have a de novo mutation site, in this case, the possibility of parental gonadal mosaicism cannot be ruled out, and genetic counseling is recommended.
  8. 参考基因组版本为 GRCh37/hg19,核苷酸改变的位置信息是基于当前版本的基因组和转录本,不同基因组版本或不同转录本,这些信息可能会有所不同。
    The reference genome version is GRCh37/hg19, and the nucleotide change position information is based on the current version of the genome and transcripts. In different genome versions or different transcripts, this information may vary.
  9. hom/het/hemi: hom 表示此突变位点为纯合突变, het 表示此突变位点为杂合突变, hemi 表示此突变位点为半合子突变。
    hom/het/hemi: hom indicates that the mutation site is homozygous, het indicates that the mutation site is heterozygous, and hemi indicates that the mutation site is hemizygous.
  10. MAF: 正常人群频率 1000 genomes(千人基因组)、ESP6500(NHLBI Exome Sequencing Project)、EXAC (The Exome Aggregation Consortium)和 EXAC-EAS(EXAC 约 4000 东亚人数据)。
    MAF: Frequency in normal population from 1000 Genomes, ESP6500 (NHLBI Exome Sequencing Project), EXAC (The Exome Aggregation Consortium) and EXAC-EAS (EXAC approximately 4000 East Asian individuals).
  11. 蛋白功能预测软件 Protein function prediction software
REVEL(rare exome variant ensemble learner) : Am J Hum Genet. 2016 Oct 6;99(4):877-885.[PMID: 27666373], D:有害;LD:可能有害;U:不确定;LB:可能良性;B:良性. spliceAI: T:影响剪接;F:不影响剪接. -:未知。
REVEL(rare exome variant ensemble learner): Am J Hum Genet. 2016 Oct 6;99(4):877-885.[PMID: 27666373], D:Deleterious;LD:Likely Deleterious;U:Uncertain;LB:Likely Benign;B:Benign. spliceAI: T:Affecting splicing;F:Not affecting splicing. -:Unknown.
  1. 根据美国医学遗传学与基因组学会 (ACMG)发布的变异解读指南进行致病性分析: pathogenic/致病性变异; likely pathogenic/疑似致㾄性变异; uncertain/临床意义未明变异; likely-benign/疑似良性变异; benign/良性变异。本检测只报告根据 ACMG 分级为“致病”、“疑似到病”、“临床意义未明”的变异,不报告“良性”及“疑似良性”等不具有临床意义的变异。有明确家族史的病人,如果有相关家属的基因检测绾果会更有助于定性疾病相关的突变。
    According to the variant interpretation guidelines published by the American College of Medical Genetics and Genomics (ACMG), pathogenic/pathogenic variant; likely pathogenic/likely pathogenic variant; uncertain/variant of uncertain significance; likely-benign/likely benign variant; benign/benign variant. This test only reports variants classified as "pathogenic", "likely pathogenic", or "uncertain significance" according to ACMG, and does not report "benign" or "likely benign" variants that are not clinically significant. For patients with a clear family history, genetic testing results of relevant family members will be more helpful in determining disease-associated mutations.
  2. 遗传方式: AR 表示常染色体隐性遗传; AD 表示常染色体显性遗传; XR 表示 X 染色体隐性遗传; XD 表示 X 染色体显性遗传。
    Inheritance pattern: AR indicates autosomal recessive inheritance; AD indicates autosomal dominant inheritance; XR indicates X-linked recessive inheritance; XD indicates X-linked dominant inheritance.
  3. 基因核苷酸变异的解释是基于目前对该基因的了解, 随着研究的深入, 这些解释也可能会发生改变。对于某些目前未知临床意义的变导或与其他疾病有关的变异未列在该报告中。
    The interpretation of the genetic nucleotide variation is based on the current understanding of the gene. As research progresses, these interpretations may change. Certain variants of unknown clinical significance or variants associated with other diseases are not included in this report.
*本报告结果只对送检样品负责。 *The results of this report are only responsible for the samples submitted for inspection.
*以上结论均为实验室分析数据, 仅供参考。 *The above conclusions are based on laboratory analysis data, for reference only.
*本中心对以上分析结果保留最终解释权, 如有疑义, 请在收到结果后的 5 个工作日内与我们联系。建议携带该报告到 “遗传性皮肤病”门诊就诊!
*This center reserves the final right of interpretation for the above analysis results. If you have any questions, please contact us within 5 working days after receiving the results. It is recommended to bring this report to the "Hereditary Skin Disease" outpatient clinic for consultation!

实验人员: 张晴, 周家健 Experimental personnel: Zhang Qing, Zhou Jiajian分析人员: 夏春兰, 杨超 Analysts: Xia Chunlan, Yang Chao

报告签发: Report issued:
材系勾。 material system.
报告日期: Report date:
2023-11-03

附录 1: 家系分析结果展示 Appendix 1: Pedigree Analysis Results

注: 由于 Sanger 验证采用正向测序或反向测序, 峰图显示的碱基有可能为被检测碱基的反向互补序列, 如: c.163G>A, 峰图可显示为 或其反向互补序列
Note: Due to Sanger sequencing using forward or reverse sequencing, the base shown in the peak plot may be the reverse complement sequence of the detected base, e.g. c.163G>A, the peak plot may show or its reverse complement .
分析样本 Analyze sample
分析结果 Analysis results
COL7A1
chr3:48614204
c.
p.Gly1869Arg
黎正华杂合变异 Li Zhenghua Heterozygous Mutation
23C731966

注: 由于 Sanger 验证采用正向测序或反向测序, 峰图显示的碱基有可能为被检测碱基的反向互补序列, 如: c.163G>A, 峰图可显示为 G>A 或其反向互补序列 C>T。
Note: Since Sanger sequencing uses either forward or reverse sequencing, the base shown in the peak trace may be the reverse complement of the detected base, e.g., for c.163G>A, the peak trace may show G>A or its reverse complement C>T.
分析样本 Analyze sample
分析结果 Analysis results
COL7A1
chr3:48622360
c.
p.Gly1332Arg
黎正华
杂合变异 Heterozygous mutation
23C731966

附录 2: 基因检测列表
Appendix 2: Gene Testing List
ABHD5 ACTA2 ACVRL1 ADAM10 ADAM17
ADAMTS17 ADAMTS 2 ADAR AIP
AIRE ALMS1
ALOXE3 ANAPC1 ANKRD11 ANOS1 ANTXR1 ANTXR2
APOA1
ARHGAP31 ARHGAP6 ARID1A ARID1B ARSE ASIP
ATP6V0A2 ATR AXIN2
B3GALT6 B3GAT3 B4GALT7 BANF1
BLOC1S3 BLOC1S6 BRAF BRCA2 BRIPI
C1QA CACNA1F CAPN12 CARD11 CARD14
CARD9 CASP14 CAST CBS CCND2 CD151
CDSN CERS3 CFTR CHD2 CHI3L1 CHKB CHRM3
CHRNA1 CHRND CHRNG CHST14 CHST8 CHUK CLDN1
CNTN2 COL12A1 COL14A1 COL17A1 COL1A1 COL1A2 COL3A1
COL4A1 COL5A1 COL5A2 COL5A3 COL7A1 COX4I2
CREBI CSTA CTNNB1 CTSA CTSC CXCR1 CXCR4
CYBA CYBB CYLD CYP26C1 CYSLTR2 DCAF17 DCLRE1C
DOCK6
DOCK8 DOCK9 DSGI DSG4
ECM1
EDARADD EDNRA EIF1AX
ELANE ELOVL1 EMILIN2 ENPP1
ERCC1 ERCC4
ERCC6 ERCC8 EWSR1 EXPH5 FAM111B
FANCA FANCB FANCC FANCD2 FANCF FANCG FANCI FANCL
FANCM FBLN5 FBNI FDPS FERMTI
FGFR2 FGFR3 FITM2 FKBP14 FLCN
FOXE1 FOXN1 FOXP3 FRAS1 FREMI FREM2 FRMD7
FUCA1 FZD6 GALNT3 GAN GATA1 GATA2
GBA GGPS1 GJA1 GJB2 GJB3 GJB4 GJB6
GLB1 GLI3 GLMN GNA11 GNAQ GNAS
GNPAT GNPTG GORAB GPNMB GPR143 GRHL2 GRIP1 GSN
GTF HAMP HARS