Subtelomeric deletion of 12p: Description of a third case and review

MacDonald, Alexandra; Rodríguez, Laura; Aceña, I.; Martínez‐Fernández, M.L.; Sánchez-Izquierdo, Dolors; Zuazo, E.; Martı́nez-Frı́as, María Luisa

doi:10.1002/ajmg.a.33401

Cited by 19 publications

(18 citation statements)

References 15 publications

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“…Although, the severity of the anomalies seen in these cases does not appear to correlate with the size of the deletion, it has been suggested that the variation in the clinical features seen in patients with del(12p) may be explained by the different sizes and locations in 12p of the deleted segments [Kivlin et al, 1985]. It is tempting to speculate that another genetic aspect may be implicated, such as imprinting or copy number variation [MacDonald et al, 2010]. The function of NRXNs in synaptic activity make the neurexin genes strong candidates that contribute to ASD [Nussbaum et al, 2008].…”

Section: Discussionmentioning

confidence: 92%

“…In the literature, at least twelve patients with interstitial deletion on the region of 12p have been reported till date [Stumm et al, 2007;MacDonald et al, 2010]. These patients' clinical phenotype are summarized in Table I.…”

Section: Discussionmentioning

confidence: 99%

“…The common phenotypes previously associated with interstitial deletions of 12p include developmental delay, mental retardation, craniofacial anomalies, microcephaly, brachydactyly, and clinodactyly. Untill now, at least 12 patients have been reported to have larger deletions of 12p with the presence of some phenotypic similarities [MacDonald et al, 2010].…”

Section: Introductionmentioning

confidence: 99%

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A 10.46 Mb 12p11.1–12.1 interstitial deletion coincident with a 0.19 Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism

Soysal

Vermeesch

Davani

et al. 2011

American J of Med Genetics Pt A

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We present a 12-year-old girl with de novo karyotype 46,XX,del(12)(p11.1p12.1). Array CGH revealed in addition to a 10.466 Mb interstitial deletion on 12p11.1→12p12.1 a 0.191 Mb deletion on 2p16.3. The girl presented with mild facial dysmorphism consisting of microcephaly, hypertelorism, downslanting palpebral fissures, strabismus, broad nasal base, bulbous nose, short philtrum, micro/retrognathia, irregular tooth arrangement, phalangeal deformity in distal phalanges of hands, 5th finger camptodactyly, brachydactyly in feet, history of joint hypermobility, and scoliosis. She was considered to have mild to moderate mental retardation and ascertained for an autism spectrum disorder(ASD). Short arm of chromosome 12 interstitial deletions are rarely reported whereas point mutations and deletions of NRXN1, which is located on chromosome 2p16.3, are associated with ASDs. In this article we present and discuss the phenotypic consequences of a patient who was affected by deletions of two different chromosomal regions.

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Section: Discussionmentioning

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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A 10.46 Mb 12p11.1–12.1 interstitial deletion coincident with a 0.19 Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism

Soysal

Vermeesch

Davani

et al. 2011

American J of Med Genetics Pt A

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“…24 12p13.33 microdeletion is a rare condition that has only been described in four case reports (three subtelomeric and one interstitial). [25][26][27][28] It is associated with ID and various psychiatric manifestations ( Table 1). The age at which the first words are uttered was delayed in 2/4 patients, but no specific data regarding speech production troubles have been reported.…”

Section: Discussionmentioning

confidence: 99%

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

et al. 2012

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Speech sound disorders are heterogeneous conditions, and sporadic and familial cases have been described. However, monogenic inheritance explains only a small proportion of such disorders, in particular in cases with childhood apraxia of speech (CAS). Deletions of o5 Mb involving the 12p13.33 locus is one of the least commonly deleted subtelomeric regions. Only four patients have been reported with such a deletion diagnosed with fluorescence in situ hybridisation telomere analysis or array CGH. To further delineate this rare microdeletional syndrome, a French collaboration together with a search in the Decipher database allowed us to gather nine new patients with a 12p13.33 subtelomeric or interstitial rearrangement identified by array CGH. Speech delay was found in all patients, which could be defined as CAS when patients had been evaluated by a speech therapist (5/9 patients). Intellectual deficiency was found in 5/9 patients only, and often associated with psychiatric manifestations of various severity. Two such deletions were inherited from an apparently healthy parent, but reevaluation revealed abnormal speech production at least in childhood, suggesting variable expressivity. The ELKS/ERC1 gene, which encodes for a synaptic factor, is found in the smallest region of overlap. These results reinforce the hypothesis that deletions of the 12p13.33 locus may be responsible for variable phenotypes including CAS associated with neurobehavioural troubles and that the presence of CAS justifies a genetic work-up.

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“…These similarities fostered the suggestion of a syndrome: the 12p deletion syndrome. However, other cases presenting a variety of phenotypes were described, hence leading to the rejection of the existence of such a syndrome [MacDonald et al, 2010]. Thevenon et al [2013] studied 9 patients with 12p13.3 microdeletions, and although findings marked phenotypic variability between patients, most of them presented childhood apraxia, intellectual disability, and psychiatric manifestations.…”

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confidence: 99%

Concurrent Loss of Heterozygosity and Mosaic Deletion of 12p13.32pter

Faria¹,

Oliveira²,

Costa³

et al. 2016

Cytogenet Genome Res

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Deletions in the short arm of chromosome 12 are the rarest subtelomeric imbalances. Less than 20 patients have been reported to date, and their microdeletions were identified either by FISH or array-CGH without SNP data. Here, we report a patient with a 12p13.32pter mosaic deletion detected by chromosome microarray analysis with loss of heterozygosity (LOH) of the deleted segment in addition to the adjacent distal segment. LOH is indicative of a complex rearrangement, suggestive of mitotic microhomology-mediated break-induced replication.

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Subtelomeric deletion of 12p: Description of a third case and review

Cited by 19 publications

References 15 publications

A 10.46 Mb 12p11.1–12.1 interstitial deletion coincident with a 0.19 Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism

A 10.46 Mb 12p11.1–12.1 interstitial deletion coincident with a 0.19 Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

Concurrent Loss of Heterozygosity and Mosaic Deletion of 12p13.32pter

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