Interstitial microdeletions including the chromosome band 4q13.2 and the <i>UBA6</i> gene as possible causes of intellectual disability and behavior disorder

Quintela, Inés; Barros, Francisco; Prieto, Montse Fernández; Martínez-Regueiro, Rocío; Castro-Gago, Manuel; Carracedo, Ángel; Gómez-Lado, Carmen; Eirís-Puñal, Jesús

doi:10.1002/ajmg.a.37291

Cited by 15 publications

(10 citation statements)

References 17 publications

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“…Neurodevelopmental abnormalities including intellectual disability, delayed speech and language development, or autism were common for all patients with an interstitial deletion in 4q13.3. Short stature was found in the DE-CIPHER patient 4688 and the patient reported by Quintela I et al [8,14]. Additionally, the phenotype of DECIPHER patient 4688 is remarkable for strabismus and skeletal abnormalities which also manifested in our patients.…”

Section: Discussionsupporting

confidence: 69%

“…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 [5][6][7][8][9]14]. The deletion detected in our patients is unique.…”

Section: Discussionmentioning

confidence: 76%

“…There are no low copy repeats or other specific DNA elements flanking deleted region, therefore deletion can be caused either by nonhomologous end joining or microhomology-mediated replicationdependent recombination. Only four unrelated patients with overlapping 4q13.3 monosomy smaller than 10 Mb and not involving the 4q21 region have been reported in literature [8] or recorded in the DECIPHER database (271, 532, 4688, and 355,915) [14] (Table 1). Quintela I et al [8] have reported a de novo 6.85 Mb deletion at 4q13.2-q13.3 in the patient with psychomotor developmental delay, mild intellectual disability, behavioral disorder, short stature and facial anomalies, including a triangular craniofacial profile with a broad forehead, narrow and slightly upslanted palpebral fissures, a broad nasal tip and a prominent narrow chin with a dimple in its medial part [8].…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2020

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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.

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Section: Discussionsupporting

confidence: 69%

Section: Discussionmentioning

confidence: 76%

Section: Discussionmentioning

confidence: 99%

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

et al. 2020

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“…In fact, UBA6′s correlation with neuronal diseases has been found in humans in multiple reported patients. UBA6 gene was found duplicated in patients with attention-deficit hyperactivity disorder and intellectual disorder (ID) or deleted in patients with ID and behavioral disorders [31,32,33,34,35]. It was significantly and strongly expressed in Alzheimer’s disease (AD) human brains compared with normal human brains [36].…”

Section: Uba6mentioning

confidence: 99%

UBA6 and Its Bispecific Pathways for Ubiquitin and FAT10

Wang¹,

Zhao²

2019

IJMS

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Questions have been raised since the discovery of UBA6 and its significant coexistence with UBE1 in the ubiquitin–proteasome system (UPS). The facts that UBA6 has the dedicated E2 enzyme USE1 and the E1–E2 cascade can activate and transfer both ubiquitin and ubiquitin-like protein FAT10 have attracted a great deal of attention to the regulational mechanisms of the UBA6–USE1 cascade and to how FAT10 and ubiquitin differentiate with each other. This review recapitulates the latest advances in UBA6 and its bispecific UBA6–USE1 pathways for both ubiquitin and FAT10. The intricate networks of UBA6 and its interplays with ubiquitin and FAT10 are briefly reviewed, as are their individual and collective functions in diverse physiological conditions.

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“…Smaller deletions have also been recorded in association with mild intellectual disability, and UBA6 was also proposed as a candidate gene [ 7 ].…”

Section: Discussionmentioning

confidence: 99%

An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and Hepatomegaly

Carter

Brittain

Morrogh

et al. 2017

Case Reports in Genetics

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Interstitial deletions of 4q are rarely reported, vary in size, and have limited genotype-phenotype correlations. Here, genome-wide array CGH analysis identified a 21.6 Mb region of copy number loss at 4q12-q21.1 in a patient diagnosed with dysmorphism, linear skin pigmentation, and hepatomegaly. An additional small ring chromosome was detected in 5/30 cells examined via G-banding. Confirmation of the origin of the ring chromosome was obtained by FISH analysis which identified that the ring chromosome contained material from the deleted region of chromosome 4 and was therefore complementary to the 21.6 Mb deletion. Further microarray studies in the proband using a different microarray platform showed no evidence of mosaicism. This case highlights the importance of an integrated approach to cytogenetic analysis and demonstrates the value of G-banding for detecting mosaicism, as current microarray platforms are unable to detect low level mosaics.

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Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder

Cited by 15 publications

References 17 publications

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

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

UBA6 and Its Bispecific Pathways for Ubiquitin and FAT10

An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and Hepatomegaly

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