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Case Reports
. 2019 Apr 17:12:16.
doi: 10.1186/s13039-019-0427-3. eCollection 2019.

Constitutional 763.3 Kb chromosome 1q43 duplication encompassing only CHRM3 gene identified by next generation sequencing (NGS) in a child with intellectual disability

Xiaofei Cheng  1 , Qifang Yang  1 , Jun Liu  2 , Juan Ye  1 , Huiying Xiao  1 , Gaimei Zhang  1 , Yuanyuan Pan  1 , Xia Li  1 , Ruifeng Hao  1 , Yinfeng Li  1
Affiliations
Case Reports

Constitutional 763.3 Kb chromosome 1q43 duplication encompassing only CHRM3 gene identified by next generation sequencing (NGS) in a child with intellectual disability

Xiaofei Cheng et al. Mol Cytogenet. .

Abstract

Background: Deletion or duplication on the distal portion of the long arm of chromosome 1 result in complex and highly variable clinical phenotype including.intellectual disability and autism.

Case presentation: We report on a patient with intellectual disability and a 763.3 Kb duplication on 1q43 that includes only CHRM3, which was detected by next generation sequencing (NGS). The patient presented with intellectual disability, developmental delay, autistic behavior, limited or no speech, social withdrawal, self-injurious, feeding difficulties, strabismus, short stature, hand anomalie, and no seizures, anxiety, or mood swings, and clinodactyly.

Conclusions: We propose that CHRM3 is the critical gene responsible for the common characteristics in the cases with 1q43 duplication and deletion.

Keywords: 1q43 duplication; CHRM3; Intellectual disability.

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Conflict of interest statement

Not applicable.Written informed consent was obtained from the patient’s parents for publication of this case report and any accompanying images.The authors declare that they have no competing interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
The figure shows some clinical features like strabismus, short stature, and hand anomalie
Fig. 2
Fig. 2
Overview of chromosome 1 with a 763.3 kb duplication of 1q43 region involving CHRM3. The region of interest has been magnified. The inheritance of duplication in our case could not be observed in parental samples
Fig. 3
Fig. 3
Genome maps of patient, patient’s father and mother
Fig. 4
Fig. 4
MRI of the head showed normal structures. a Axial FLAIR image at the level of the lateral ventricles. b Diffusion Tensor Imaging (DTI) image. c, d DTI color maps
Fig. 5
Fig. 5
Whole-exome sequencing. The single-nucleotide polymorphism (SNPs) were not found in CHRM3
See this image and copyright information in PMC

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