EurekaMag.com logo
+ Site Statistics
References:
53,869,633
Abstracts:
29,686,251
+ Search Articles
+ Subscribe to Site Feeds
EurekaMag Most Shared ContentMost Shared
EurekaMag PDF Full Text ContentPDF Full Text
+ PDF Full Text
Request PDF Full TextRequest PDF Full Text
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter
Follow on LinkedInFollow on LinkedIn

+ Translate

An interstitial 20q11.21 microdeletion causing mild intellectual disability and facial dysmorphisms



An interstitial 20q11.21 microdeletion causing mild intellectual disability and facial dysmorphisms



Case Reports in Genetics 2013: 353028-353028



We report a case of an interstitial chromosome 20q11.21 microdeletion in a 7-year-old male child presenting with mild intellectual disability and facial dysmorphisms. Array comparative genomic hybridization (CGH) has shown that the deletion resulted in the loss of 68 genes, among which 5 genes (COX4I2, MYLK2, ASXL1, DNMT3B, and SNTA1) are disease causing. The size of the deletion was estimated to span 2.6 Mb. Only three cases of deletions encompassing this chromosomal region have been reported. The phenotype of the index patient was found to resemble the mildest cases of Bohring-Opitz syndrome that is caused by ASXL1 mutations. An in silico evaluation of the deleted genomic region has shown that benign genomic variations have never been observed to affect the ASXL1 gene, in contrast to the other disease-causing genes. As a result, it was suggested that ASXL1 loss is likely to be the main cause of the phenotypic manifestations. The present case report indicates that a loss of the disease-causing gene can produce a milder phenotype of a single gene condition.

(PDF emailed within 0-6 h: $19.90)

Accession: 036765763

Download citation: RISBibTeXText

PMID: 23476833

DOI: 10.1155/2013/353028



Related references

Microdeletion of 12q24.31: report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms. American Journal of Medical Genetics. Part A 167a(2): 438-444, 2015

Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms. European Journal of Medical Genetics 57(9): 513-519, 2015

Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients. American Journal of Medical Genetics. Part A, 2017

Ade novo357 Mb microdeletion in 8q123q132 in a patient with mild intellectual disability and epilepsy. 2011

A de novo 3.57 Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsy. European Journal of Medical Genetics 55(5): 358-361, 2012

A de novo 1.13 Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphism. European Journal of Medical Genetics 55(6-7): 437-440, 2012

RORB gene and 9q21.13 microdeletion: report on a patient with epilepsy and mild intellectual disability. European Journal of Medical Genetics 57(1): 44-46, 2014

GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK. Human Mutation 36(10): 1009-1014, 2016

Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability. Molecular Syndromology 7(6): 344-348, 2016

A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis. Genetics Research 97: E19-E19, 2016

Microdeletion in distal 17p13.1: a recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability. American Journal of Medical Genetics. Part A 158a(8): 1832-1836, 2012

A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects. European Journal of Paediatric Neurology 21(6): 902-906, 2017

3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases. Case Reports in Genetics 2015: 876348-876348, 2015

Interstitial duplication of chromosome region 1q25.1q25.3: report of a patient with mild cognitive deficits, tall stature and facial dysmorphisms. American Journal of Medical Genetics. Part A 167a(3): 653-656, 2016

Major feeding difficulties in the first reported case of interstitial 20q11.22-q12 microdeletion and molecular cytogenetic characterization. American Journal of Medical Genetics. Part A 140a(17): 1859-1863, 2006