Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems
Minh-Tuan Huynh1, Marion Gérard2, Kara Ranguin2
1Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, 9 quai Moncousu, 44093, Nantes cedex 1, France. minhtuannia82@yahoo.it.
Neurogenetics
|June 16, 2021
Summary
This study identifies a novel 2q12.3q13 microdeletion syndrome linked to developmental delay. The findings highlight recurrent copy number variations (CNVs) as a potential risk factor with diverse clinical presentations.
Area of Science:
- Genetics
- Genomic Medicine
- Developmental Biology
Background:
- Microarray-based comparative genomic hybridization (aCGH) is crucial for identifying genomic disorders in developmental delay cases.
- Interstitial 2q12.3q13 microdeletions are increasingly recognized but require further characterization.
Purpose of the Study:
- To describe clinical and cytogenetic data of three patients with 2q12.3q13 microdeletion.
- To compare these cases with existing literature data to define the smallest region of overlap (SRO) and identify candidate genes.
Main Methods:
- Utilized 60K aCGH analysis to detect microdeletions.
- Confirmed findings using fluorescence in situ hybridization (FISH) and quantitative real-time PCR.
- Collected and analyzed clinical and cytogenetic data from sixteen patients.
Main Results:
- Identified three overlapping 2q12.3q13 microdeletions ranging from 0.41 Mb to 1.88 Mb.
- Observed variable clinical features including microcephaly, developmental delay, and congenital anomalies.
- Defined a 249 kb SRO in 2q12.3 encompassing four genes: LIMS1, RANBP2, CCDC138, and EDAR.
Conclusions:
- This is the first report of 2q12.3q13 microdeletion syndrome.
- RANBP2 is a strong candidate gene for neurological phenotypes and susceptibility to viral infections.
- Recurrent CNVs in this region may represent a novel risk factor for developmental delay with variable expressivity.
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