Osteosarcoma y síndrome ATR-16, ¿asociación o coincidencia?

García, A.; Fiaño, Rebeca Saborido; Calvete, Laura González; Donsión, Manuel Vázquez; Sánchez, J.M. Martinón; Sanmartín, M. Fernández

doi:10.1016/j.anpedi.2014.02.008

Cited by 2 publications

(2 citation statements)

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“…In addition to Hb H disease, the proband also showed significant features of developmental delay (delayed motor skills: started walking at 2 years 7 months; language difficulty; lack of social inhibitors; disordered sleep confirmed by polysomnogram and hyperactivity) and other dysmorphic features, many of them compatible with ATR‐16 [Regueiro García et al, ] such as hypertelorism, downturned corners of mouth, anteverted nostrils, long philtrum, prognathism, arched palate, short neck, broad chest (with widely spaced nipples and mild pectus excavatum) and spindle fingers (Fig. ).…”

Section: Methodsmentioning

confidence: 99%

Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disability

Scheps

Francipane

Nevado

et al. 2016

American J of Med Genetics Pt A

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Two distinct syndromes that link α-thalassemia and intellectual disability (ID) have been described: ATR-X, due to mutations in the ATRX gene, and ATR-16, a contiguous gene deletion syndrome in the telomeric region of the short arm of chromosome 16. A critical region where the candidate genes for the ID map has been established. In a pediatric patient with Hemoglobin H disease, dysmorphic features and ID, 4 novel and clinically relevant Copy Number Variants were identified. PCR-GAP, MLPA and FISH analyses established the cause of the α-thalassemia. SNP-array analysis revealed the presence of 4 altered loci: 3 deletions (arr[hg19]Chr16(16p13.3; 88,165-1,507,988) x1; arr[hg19]Chr6(6p21.1; 44,798,701-45,334,537) x1 and arr[hg19]Chr17(17q25.3; 80,544,855-81,057,996) x1) and a terminal duplication (arr[hg19]Chr7(7p22.3-p22.2; 4,935-4,139,785) x3). The -α(3.7) mutation and the ∼1.51 Mb in 16p13.3 are involved in the alpha-thalassemic phenotype. However, the critical region for ATR-16 cannot be narrowed down. The deletion affecting 6p21.1 removes the first 2 exons and part of intron 2 of the RUNX2 gene. Although heterozygous loss of function mutations affecting this gene have been associated with cleidocranial dysplasia, the patient does not exhibit pathognomonic signs of this syndrome, possibly due to the fact that the isoform d of the transcription factor remains unaffected. This work highlights the importance of searching for cryptic deletions in patients with ID and reiterates the need of the molecular analysis when it is associated to microcytic hypochromic anemia with normal iron status.

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Section: Methodsmentioning

confidence: 99%

Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disability

Scheps

Francipane

Nevado

et al. 2016

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…Thus, we speculate that this gene deletion, in the context of ATR‐16 syndrome, might have had a promoting role in the generation of the fetal extraventricular neurocytoma. To support this hypothesis, an association between ATR‐16 syndrome and osteosarcoma has been described 10 . The fact that the combination of ATR‐16 syndrome with extraventricular neurocytoma has never been noted could be related to the low incidence of those disorders.…”

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confidence: 99%