Skip to content
DraconiticResearch
Search Sources API
203,234 studies31 sourcesUpdated 22 min ago
Peer-reviewedCC BYJournal of clinical laboratory analysis

Molecular Genetic Analysis and Prenatal Diagnosis of a Family With MECP2 Duplication Syndrome.

  • FengQiu Lin1
  • DingGuo Chen1,2
  • ZhengLin Lu1
  • Yu Huang1
  • ChunFang Wang1
  • JuHua Liang1
  • XueJuan Nong1
  • ZhengYi Chang1
  • FuBo Wei1,2
  • GuiDan Xu1,3,4
4 affiliations
  1. 1Department of Laboratory Center, Affiliated Hospital of Youjiang Medical University for Nationalities, Baise, Guangxi Zhuang Autonomous Region, China.
  2. 2Graduate School of Youjiang Medical University for Nationalities, Baise, Guangxi Zhuang Autonomous Region, China.
  3. 3Key Laboratory of Research on Clinical Molecular Diagnosis for High Incidence Diseases in Western Guangxi of Guangxi Higher Education Institutions, Education Department of Guangxi Zhuang Autonomous Region, Baise, Guangxi Zhuang Autonomous Region, China.
  4. 4Guangxi Engineering Research Center for Precise Genetic Testing of Long-dwelling Nationalities, Baise, Guangxi Zhuang Autonomous Region, China.
Read full textPDFDOICite

Abstract

Objective

This study aimed to conduct a molecular genetic analysis and prenatal diagnosis for a family with MECP2 duplication syndrome (MDS), with the goal of improving diagnostic accuracy and enabling informed reproductive decisions to reduce the incidence of this condition.Methods

The study involved a proband (a 15-week-old fetus), his symptomatic older brother, and their parents. Genomic DNA from chorionic villus and peripheral blood samples was analyzed using high-throughput sequencing to detect chromosomal copy number variations (CNVs). To confirm the findings, multiplex ligation-dependent probe amplification (MLPA) was specifically employed.Results

High-throughput sequencing identified a 0.35 Mb duplication at Xq28 in the fetus and his mother, and a 0.4 Mb duplication in the brother. The duplicated region contained the critical MECP2 gene. MLPA analysis confirmed the MECP2 gene duplication in the fetus, leading to a definitive diagnosis of MDS. The mother was identified as an asymptomatic carrier.Conclusion

Both the proband and his brother were diagnosed with MDS, having inherited the duplication from their asymptomatic mother. The combined use of high-throughput sequencing and MLPA proved to be an effective strategy for accurate pedigree analysis and prenatal diagnosis of MDS, providing a crucial basis for genetic counseling.

Related

  1. Newborn Screening of Primary Carnitine Deficiency and Prenatal Genetic Diagnosis for a Recurrence‐Risk Family
    Huilin Sun, Jianli Zheng, Chong Zhou +6
    Molecular genetics & genomic medicinePeer-reviewedCC BYFull textGenetics & genomicsEurope PMC
  2. Fraser Syndrome From Prenatal Diagnosis to Multidisciplinary Management and Long-Term Care: A Narrative Review.
    Shanza Rana
    CureusPeer-reviewedCC BYFull textDevelopmental biologyEurope PMC
  3. Prenatal diagnosis of Fowler syndrome with two novel pathogenic variants of FLVCR2
    Liyan Qiu, Yuqing Yao, Chunling Li +3
    BMC Pregnancy and ChildbirthPeer-reviewedCC BY-NC-ND 4.0Full textGenetics & genomicsPMC
  4. Long-Term Experience in the Molecular Genetic Diagnosis of Friedreich Ataxia in the Russian Federation
    Olga Ismagilova, Tagui Adyan, Nailya Galeeva +7
    GenesPeer-reviewedCC BYFull textGenetics & genomicsEurope PMC
  5. Functional Validation of a CC2D2A Non-Canonical Splice-Site Variant Supports Prenatal Molecular Testing in Joubert Syndrome.
    Fang Wang, Jiaying Zhang, Chao Lu +10
    Diagnostics (Basel, Switzerland)Peer-reviewedCC BYFull textGenetics & genomicsEurope PMC

Cite

BibTeXRIS
BibTeX
@article{lin2026molecular,
  title = {{Molecular Genetic Analysis and Prenatal Diagnosis of a Family With MECP2 Duplication Syndrome.}},
  author = {FengQiu Lin and DingGuo Chen and ZhengLin Lu and Yu Huang and ChunFang Wang and JuHua Liang and XueJuan Nong and ZhengYi Chang and FuBo Wei and GuiDan Xu},
  journal = {Journal of clinical laboratory analysis},
  year = {2026},
  month = oct,
  doi = {10.1002/jcla.70373},
  url = {https://europepmc.org/article/MED/42885210},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Molecular Genetic Analysis and Prenatal Diagnosis of a Family With MECP2 Duplication Syndrome.
AU  - FengQiu Lin
AU  - DingGuo Chen
AU  - ZhengLin Lu
AU  - Yu Huang
AU  - ChunFang Wang
AU  - JuHua Liang
AU  - XueJuan Nong
AU  - ZhengYi Chang
AU  - FuBo Wei
AU  - GuiDan Xu
PY  - 2026
DA  - 2026/10/15
JO  - Journal of clinical laboratory analysis
DO  - 10.1002/jcla.70373
UR  - https://europepmc.org/article/MED/42885210
AB  - Objective  This study aimed to conduct a molecular genetic analysis and prenatal diagnosis for a family with MECP2 duplication syndrome (MDS), with the goal of improving diagnostic accuracy and enabling informed reproductive decisions to reduce the incidence of this condition.Methods  The study involved a proband (a 15-week-old fetus), his symptomatic older brother, and their parents. Genomic DNA from chorionic villus and peripheral blood samples was analyzed using high-throughput sequencing to detect chromosomal copy number variations (CNVs). To confirm the findings, multiplex ligation-dependent probe amplification (MLPA) was specifically employed.Results  High-throughput sequencing identified a 0.35 Mb duplication at Xq28 in the fetus and his mother, and a 0.4 Mb duplication in the brother. The duplicated region contained the critical MECP2 gene. MLPA analysis confirmed the MECP2 gene duplication in the fetus, leading to a definitive diagnosis of MDS. The mother was identified as an asymptomatic carrier.Conclusion  Both the proband and his brother were diagnosed with MDS, having inherited the duplication from their asymptomatic mother. The combined use of high-throughput sequencing and MLPA proved to be an effective strategy for accurate pedigree analysis and prenatal diagnosis of MDS, providing a crucial basis for genetic counseling.
SN  - 0887-8013
SN  - 1098-2825
ER  -