NDLI: A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability

Content Provider	Springer Nature : BioMed Central
Author	Maldžienė, Živilė Vaitėnienė, Evelina M. Aleksiūnienė, Beata Utkus, Algirdas Preikšaitienė, Eglė
Abstract	Background Interstitial 4q deletions are rare chromosomal alterations. Most of the previously reported deletions involving the 4q13.3 region are large chromosomal alterations with a common loss of band 4q21 resulting in marked growth restriction, severe intellectual disability, and absent or severely delayed speech. A microdeletion of 4q13.3 hasn’t been previously reported. We discuss the involvement of genes and the observed phenotype, comparing it with that of previously reported patients. Case presentation We report on a 4q13.3 microdeletion detected in three affected individuals of a Lithuanian family. The clinical features of two affected children and their affected mother are very similar and include short stature, congenital heart defect, skeletal anomalies, minor facial anomalies, delayed puberty, and intellectual disability. Whole genome SNP microarray analysis of one child revealed an interstitial 4q13.3 microdeletion, 1.56 Mb in size. FISH analysis confirmed the deletion in the proband and identified the same deletion in her affected sib and mother, while it was not detected in a healthy sib. Deletion includes ADAMTS3, ANKRD17, COX18, GC, and NPFFR2 protein-coding genes. Conclusions Our findings suggest that 4q13.3 microdeletion is a cause of a recognizable phenotype of three affected individuals. The detected microdeletion is the smallest interstitial deletion in 4q13. We highlight ADAMTS3, ANKRD17 and RNU4ATAC9P as candidate genes for intellectual disability, growth retardation and congenital heart defect.
Related Links	https://bmcmedgenomics.biomedcentral.com/counter/pdf/10.1186/s12920-020-0711-4.pdf
Ending Page	6
Page Count	6
Starting Page	1
File Format	HTM / HTML
ISSN	17558794
DOI	10.1186/s12920-020-0711-4
Journal	BMC Medical Genomics
Issue Number	1
Volume Number	13
Language	English
Publisher	BioMed Central
Publisher Date	2020-04-16
Access Restriction	Open
Subject Keyword	Human Genetics Microarrays Gene Expression ADAMTS3 ANKRD17 COX18 4q13.3 microdeletion Intellectual disability Congenital anomalies
Content Type	Text
Resource Type	Case study
Subject	Genetics (clinical) Genetics
Journal Impact Factor	2.1/2023
5-Year Journal Impact Factor	2.5/2023

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report

Familial inheritance of the 3q29 microdeletion syndrome: case report and review

Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report

A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability

11p11.12p12 duplication in a family with intellectual disability and craniofacial anomalies

A novel phenotype of 13q12.3 microdeletion characterized by epilepsy in an Asian child: a case report

Multiple malignant tumors in a patient with familial chordoma, a case report

A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures

A 15q25.2 microdeletion phenotype for premature ovarian failure in a Chinese girl: a case report and review of literature

A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability

Similar Documents

Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report

Familial inheritance of the 3q29 microdeletion syndrome: case report and review

Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report

A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability

11p11.12p12 duplication in a family with intellectual disability and craniofacial anomalies

A novel phenotype of 13q12.3 microdeletion characterized by epilepsy in an Asian child: a case report

Multiple malignant tumors in a patient with familial chordoma, a case report

A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures

A 15q25.2 microdeletion phenotype for premature ovarian failure in a Chinese girl: a case report and review of literature

A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability