9p13.1p13.3 interstitial deletion: A case report and further delineation of a rare condition

Crone, Megan; Thomas, Mary Ann

doi:10.1002/ajmg.a.37534

Cited by 3 publications

(5 citation statements)

References 20 publications

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“…In the other male patient, aged 7 and half years, tremor worsened under emotional stress. This association was confirmed by Crone and Thomas (2016) who described the fifth patient with 9p13.3p13.1 deletion manifesting tremor since the age of 3 years. It was postural and worsened during stressful activities or anxiety, again associated with early‐onset myoclonic jerks, later resolved.…”

Section: Discussionmentioning

confidence: 55%

“…Both rearrangements arose de novo as postulated by segregation analysis in parental samples, which tested negative for the specific rearrangement. The identified deletions were compared to those described by Crone and Thomas (2016), Niemi et al (2012), Giltay et al (1994), and Eshel et al (2002) thus defining the SRO shared by all patients extending 2.09 Mb from 33,819,009 to 35,911,318 (Figure 1(C)). This SRO included 76 genes, 14 of which are associated with at least one OMIM phenotype (Supplementary Table 1).…”

Section: Methods and Resultsmentioning

confidence: 99%

“…Despite the variability of deletion sizes, previous authors suggested the existence of a common phenotype mainly consisting of craniofacial dysmorphism, developmental and cognitive delay, precocious puberty, and abnormal genitalia (Crone & Thomas, 2016). Of note, three of them had early‐onset tremor (Crone & Thomas, 2016; Niemi et al, 2012).…”

Section: Introductionmentioning

confidence: 99%

“…Conversely, 9p proximal deletions are far less common with only a few cases published so far. In particular, two patients were diagnosed with 9p12p13 deletions at standard karyotyping (Eshel, Lahat, Reish, & Barr, 2002; Giltay, Gerssen‐Schoorl, & van der Wagen, 1994), while in three distinct patients, variable deletions of 4.8–5.9 Mb were recently identified by genomic microarray analysis (Crone & Thomas, 2016; Niemi, Kwan, Hudgins, Cherry, & Manning, 2012).…”

Section: Introductionmentioning

confidence: 99%

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Tremor is a major feature of 9p13 deletion syndrome

Ferreira

Cinnirella

Ramos

et al. 2020

American J of Med Genetics Pt A

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Proximal interstitial deletions of chromosome 9p13 have been described only in a few patients with developmental delay, moderate intellectual disability, craniofacial dysmorphism, short stature, genital anomalies, and precocious puberty. To corroborate and expand these findings, we report on two novel syndromic male patients with 9p13 deletions suffering from a similar form of tremor and compare them with literature data. Despite genomic variability in deletion sizes, all patients displayed homogeneous dysmorphism and clinical manifestations, including very invalidating tremor. Furthermore, we outlined a region of around 2 Mb shared in common by all patients with nearly 70 genes, among which NPR2 might have a role in the phenotype. These data delineate interstitial 9p13 deletion syndrome with tremor as a major feature.

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Section: Discussionmentioning

confidence: 55%

Section: Methods and Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Tremor is a major feature of 9p13 deletion syndrome

Ferreira

Cinnirella

Ramos

et al. 2020

American J of Med Genetics Pt A

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“…Further studies are needed to assess cognition and behaviors in heterozygous mice. In humans, 9p13 microdeletion syndrome leads to haploinsufficiency of VCP and is associated with DD, ID, and tremor, along with other findings such as short stature, genital anomalies, and precocious puberty (49)(50)(51). Although many other genes are present in the ~2-5 Mb deletions, VCP should be considered a candidate gene for the 9p13 deletion neurological/developmental phenotype.…”

Section: Discussionmentioning

confidence: 99%

A Novel Autosomal Dominant Childhood-Onset Disorder Associated with Pathogenic Variants inVCP

Mah-Som

Daw

Huynh

et al. 2023

Preprint

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Valosin-containing protein (VCP) is an AAA+ ATPase that plays critical roles in multiple ubiquitin-dependent cellular processes. Dominant pathogenic variants inVCPare associated with adult-onset multisystem proteinopathy (MSP) that presents with myopathy, bone disease, dementia, and/or motor neuron disease. Through GeneMatcher, we identified 13 unrelated individuals who carry novel heterozygousVCPvariants (12de novo, 1 inherited) associated with a childhood-onset disorder characterized by developmental delay, intellectual disability, hypotonia, and macrocephaly. Trio exome sequencing or multigene panel identified nine missense variants, two in-frame deletions, one frameshift, and one splicing variant. We performedin vitrofunctional studies andin silicomodelling to investigate the impact of these variants on protein function. In contrast to MSP variants, most missense variants had decreased ATPase activity, and one caused hyperactivation. Other variants were predicted to cause haploinsufficiency, suggesting a loss-of-function mechanism. This is the first description ofVCP-related neurodevelopmental disease presenting in childhood.

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