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[Clinical phenotype and genetic analysis of MED13L syndrome]

Qing-Jie Meng1, Xue-Lian He, Han Xiao

  • 1Clinical Laboratory, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China. xiangyun5272008@163.com.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics
|October 20, 2017
PubMed

Insights

This study identifies MED13L syndrome in a young boy with developmental delays and unique facial features. Genome-wide SNP arrays pinpointed a chromosome 12 duplication, aiding diagnosis.

Area of Science:

  • Genetics
  • Developmental Pediatrics
  • Clinical Diagnostics

Background:

  • MED13L syndrome is a rare genetic disorder.
  • Genetic mutations in the MED13L gene are implicated in its pathogenesis.
  • Phenotypic variability exists among patients with MED13L syndrome.

Observation:

  • A 4-year-old boy presented with delayed language and motor development, gait instability, poor eye contact, stereotyped behaviors, and seizures.
  • Physical examination revealed distinctive facial features (plagiocephaly, blepharoptosis, wide nasal bridge, down-turned mouth corners, low-set ears) and skeletal anomalies (scoliosis, reduced knuckles).
  • Cardiac evaluation showed a ventricular septal defect, and developmental assessments indicated moderate intellectual disability.

Findings:

  • Karyotype analysis was normal.
  • Genome-wide single-nucleotide polymorphism (SNP) arrays detected a 1.03 Mb duplication in the 12q24.21 region of chromosome 12, absent in parental samples.
  • The patient was diagnosed with MED13L syndrome based on clinical presentation and genetic findings.

Implications:

  • Genome-wide SNP arrays are a valuable tool for diagnosing MED13L syndrome, especially in cases with atypical presentations.
  • Understanding genotype-phenotype correlations in MED13L syndrome is crucial for accurate diagnosis and management.
  • Early identification of MED13L syndrome through genetic testing can facilitate timely intervention and support for affected individuals.

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