PMID- 38203422
OWN - NLM
STAT- MEDLINE
DCOM- 20240112
LR  - 20240113
IS  - 1422-0067 (Electronic)
IS  - 1422-0067 (Linking)
VI  - 25
IP  - 1
DP  - 2023 Dec 23
TI  - Diversity of Clinical and Molecular Characteristics in Korean Patients with 
      16p11.2 Microdeletion Syndrome.
LID - 10.3390/ijms25010253 [doi]
LID - 253
AB  - 16p11.2 copy number variations (CNVs) are increasingly recognized as one of the 
      most frequent genomic disorders, and the 16p11.2 microdeletion exhibits broad 
      phenotypic variability and a diverse clinical phenotype. We describe the 
      neurodevelopmental course and discordant clinical phenotypes observed within and 
      between individuals with identical 16p11.2 microdeletions. An analysis with the 
      CytoScan Dx Assay was conducted on a GeneChip System 3000Dx, and the sample 
      signals were then compared to a reference set using the Chromosome Analysis Suite 
      software version 3.1. Ten patients from six separate families were identified 
      with 16p11.2 microdeletions. Nine breakpoints (BPs) 4-5 and one BP2-5 of the 
      16p11.2 microdeletion were identified. All patients with 16p11.2 microdeletions 
      exhibited developmental delay and/or intellectual disability. Sixty percent of 
      patients presented with neonatal hypotonia, but muscle weakness improved with 
      age. Benign infantile epilepsy manifested between the ages of 7-10 months (a 
      median of 8 months) in six patients (60%). Vertebral dysplasia was observed in 
      two patients (20%), and mild scoliosis was noted in three patients. Sixty percent 
      of patients were overweight. We present six unrelated Korean families, among 
      which identical 16p11.2 microdeletions resulted in diverse developmental 
      trajectories and discordant phenotypes. The clinical variability and incomplete 
      penetrance observed in individuals with 16p11.2 microdeletions remain unclear, 
      posing challenges to accurate clinical interpretation and diagnosis.
FAU - Han, Ji Yoon
AU  - Han JY
AUID- ORCID: 0000-0002-4174-5266
AD  - Department of Pediatrics, College of Medicine, The Catholic University of Korea, 
      Seoul 06591, Republic of Korea.
FAU - Cho, Yong Gon
AU  - Cho YG
AUID- ORCID: 0000-0003-3011-6875
AD  - Department of Laboratory Medicine, Jeonbuk National University Medical School and 
      Hospital, Jeonju 54907, Republic of Korea.
AD  - Research Institute of Clinical Medicine of Jeonbuk National University-Biomedical 
      Research Institute of Jeonbuk National University Hospital, Jeonju 54907, 
      Republic of Korea.
FAU - Jo, Dae Sun
AU  - Jo DS
AD  - Research Institute of Clinical Medicine of Jeonbuk National University-Biomedical 
      Research Institute of Jeonbuk National University Hospital, Jeonju 54907, 
      Republic of Korea.
AD  - Department of Pediatrics, Jeonbuk National University Medical School and 
      Hospital, Jeonju 54907, Republic of Korea.
FAU - Park, Joonhong
AU  - Park J
AUID- ORCID: 0000-0001-7354-4234
AD  - Department of Laboratory Medicine, Jeonbuk National University Medical School and 
      Hospital, Jeonju 54907, Republic of Korea.
AD  - Research Institute of Clinical Medicine of Jeonbuk National University-Biomedical 
      Research Institute of Jeonbuk National University Hospital, Jeonju 54907, 
      Republic of Korea.
LA  - eng
GR  - 2021RIF1A063568/This work was supported by a grant of the National Research 
      Foundation of Korea (NRF) funded by the Korean government (Ministry of Science 
      and ICT (MSIT): 2021RIF1A063568)/
PT  - Journal Article
DEP - 20231223
PL  - Switzerland
TA  - Int J Mol Sci
JT  - International journal of molecular sciences
JID - 101092791
SB  - IM
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - *DNA Copy Number Variations
MH  - Republic of Korea
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 16/genetics
MH  - Phenotype
MH  - *Genetic Diseases, Inborn
MH  - Developmental Disabilities/genetics
MH  - Intellectual Disability/genetics
MH  - East Asian People
PMC - PMC10779371
OTO - NOTNLM
OT  - 16p11.2 microdeletion
OT  - CytoScan Dx Assay
OT  - benign infantile epilepsy
OT  - developmental delay
OT  - intellectual disability
OT  - neonatal hypotonia
OT  - phenotypic heterogeneity
OT  - vertebral abnormalities
COIS- The authors declare no conflicts of interest.
EDAT- 2024/01/11 07:43
MHDA- 2024/01/12 06:43
PMCR- 2023/12/23
CRDT- 2024/01/11 01:18
PHST- 2023/11/15 00:00 [received]
PHST- 2023/12/12 00:00 [revised]
PHST- 2023/12/20 00:00 [accepted]
PHST- 2024/01/12 06:43 [medline]
PHST- 2024/01/11 07:43 [pubmed]
PHST- 2024/01/11 01:18 [entrez]
PHST- 2023/12/23 00:00 [pmc-release]
AID - ijms25010253 [pii]
AID - ijms-25-00253 [pii]
AID - 10.3390/ijms25010253 [doi]
PST - epublish
SO  - Int J Mol Sci. 2023 Dec 23;25(1):253. doi: 10.3390/ijms25010253.