Hypereosinophilic syndrome and hemimelia in a patient with chromosome 6p22.3 deletion

Ladinsky, Hava Tillipman; Elizalde, Araceli; Schickler, Robyn; Dees, Paola; Crenshaw, Melissa; Sleasman, John W.

doi:10.1111/pai.12213

Cited by 9 publications

(9 citation statements)

References 11 publications

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“…The deletions encompass four protein coding genes: MBOAT1 , E2F3, CDKAL1 and SOX4 on chromosome 6p22.3. A similar, recently published family is shown below 16. In this study, a fourth patient was found to have a slightly larger deletion extending further distal, encompassing also the telomeric gene ID4 , without any skeletal abnormalities (red bar).…”

Section: Resultssupporting

confidence: 75%

“…The overlapping deletions on chromosome 6p22.3, as well as another case published by Landinsky et al 16 in 2014, are shown in figure 3. Mutations on the second allele were excluded by sequencing of all exons and splice sites of patients 2 and 3. The phenotypic characteristics of our patients and the patient described by Ladinsky et al are compared in table 1.…”

Section: Resultsmentioning

confidence: 80%

“…A fourth case with an overlapping microdeletion and striking clinical as well as radiological similarities was recently published 16. This patient additionally presented with hypereosinophilic syndrome, sensorineural hearing loss due to malformation of the semicircular canals and mild craniofacial dysmorphic features.…”

Section: Discussionmentioning

confidence: 90%

“…Individuals 1, 2 and the patient of Ladinsky et al are reported in detail in the original articles 5 7 16

NA, information not available.

…”

Section: Resultsmentioning

confidence: 99%

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Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

et al. 2015

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Section: Resultssupporting

confidence: 75%

Section: Resultsmentioning

confidence: 80%

Section: Discussionmentioning

confidence: 90%

“…Individuals 1, 2 and the patient of Ladinsky et al are reported in detail in the original articles 5 7 16

NA, information not available.

…”

Section: Resultsmentioning

confidence: 99%

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Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

et al. 2015

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“…The similar MAF of rs77152992 between 800 Koreans (14.9%) and 61 healthy controls (16%) demonstrates the credibility of the data despite the small sample size in this case-control study. A previous study reported that a patient with a chromosome 6p22.3 deletion had hypereosinophilic syndrome 20 . rs77152992 was located in 6p22.3, and a high eosinophil count has been observed in AD patients with major allele (CC) genotype.…”

Section: Discussionmentioning

confidence: 98%

Association of CDKAL1 Polymorphisms with Early-Onset Atopic Dermatitis in Koreans

et al. 2018

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BackgroundAtopic dermatitis (AD) has increased in frequency to rates as high as 20% for children in developed countries. AD is one of the most common childhood diseases and has a complex etiology involving genetic and environmental factors. Thus, a broad understanding of genetic background is needed for early diagnosis of AD.ObjectiveIdentification of candidate functional genetic variants associated with early-onset AD in Koreans.MethodsWhole-exome sequencing (WES) was performed in three families. Sanger sequencing was used to validate detected variants in 112 AD patients and 61 controls.ResultsFunctional variants were filtered by WES, and then variants related to allergic immune diseases were selected through a literature search. Two candidate non-synonymous single-nucleotide polymorphisms of CDKAL1 (rs77152992) and ERBB2 (rs1058808) were identified, c.1226C>T, p.Pro409Leu, c.3463C>G, and p. Pro1170Ala respectively. A case-control study was performed to determine whether rs77152992 and rs1058808 are candidate risk factors for early-onset AD. rs77152992 was significantly associated with early-onset AD (odds ratio [OR], 0.42; 95% confidence interval [CI], 0.21~0.83; p=0.0133) in allele frequencies. The CC genotype of CDKAL1 had significantly increased risk of AD (OR, 2.16; 95% CI, 1.0~4.6; p=0.0475). rs1058808 had no correlation with AD. Total eosinophil count was significantly increased in AD patients with the CC genotype of CDKAL1 (rs77152992).ConclusionCDKAL1 (rs77152992) and ERBB2 (rs1058808) were deemed functionally interesting based on WES. Our case-control study suggests that the CC genotype of rs77152992 may be associated with increased eosinophil counts. It may enhance the risk of early-onset AD.

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A CNV Catalogue

Wyandt

Wilson

Tonk

2017

Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis

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Hypereosinophilic syndrome and hemimelia in a patient with chromosome 6p22.3 deletion

Cited by 9 publications

References 11 publications

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

Association of CDKAL1 Polymorphisms with Early-Onset Atopic Dermatitis in Koreans

A CNV Catalogue

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