Acute myeloid leukaemia in a patient with Seckel syndrome.

Hayani, Ammar; Suarez, CR; Molnar, Zelma; LeBeau, Michelle M.; Godwin, John

doi:10.1136/jmg.31.2.148

Cited by 44 publications

(30 citation statements)

References 6 publications

(3 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Using two independent assays, we could not demonstrate a known phenotype of FA or an anomalous expression of the two currently known FA gene products in our patients. It should be noted that neither of our patients have had any hematological complications, while the patients with Seckel syndrome who were reported to have had spontaneous and MMC-induced chromosomal breakage were ascertained when they developed pancytopenia or hematological malignancies [Butler et al, 1987;Hayani et al, 1994;Syrrou et al, 1995]. This is the second report of Seckel syndrome in patients from the Arabian peninsula [Krishna et al, 1994].…”

Section: Discussionmentioning

confidence: 77%

Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two Patients with Seckel syndrome

Abou-Zahr

Bejjani

Kruyt³

et al. 1999

Am. J. Med. Genet.

View full text Add to dashboard Cite

Seckel syndrome is a rare autosomal recessive disorder. The classical presentation includes pre- and postnatal growth deficiency, mental retardation, and characteristic facial appearance. There have been several reports of associated hematological abnormalities and chromosomal breakage, findings suggestive of Fanconi anemia (FA). We tested for these findings in two Arabic patients with this syndrome. We compared the growth profile of lymphoblastoid cells from our patients and their parents with the FA group A cell line HSC72 in the presence and absence of mitomycin C (MMC). By Western analysis, we also determined the expression of FAA and FAC, two FA disease gene products that together account for approximately 80% of FA. Unlike HSC72 cells, cells from the patients were resistant to MMC, and both FAA and FAC proteins were expressed at similar levels in all cell lines. There is an increasing recognition of clinical variability and perhaps genetic heterogeneity in Seckel syndrome. Our results demonstrate that cross-link sensitivity comparable to FA is not a uniform finding in patients with Seckel syndrome.

show abstract

Section: Discussionmentioning

confidence: 77%

Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two Patients with Seckel syndrome

Abou-Zahr

Bejjani

Kruyt³

et al. 1999

Am. J. Med. Genet.

View full text Add to dashboard Cite

show abstract

“…100,101 Mutations in ATR underlie Seckel syndrome (SCKL1) a rare autosomal recessive disorder characterized by severe growth retardation, short stature, microcephaly, mental retardation, and increased risk for acute myeloid leukemia (AML), myelodysplasia (MDS), and aplastic anemia, similar to FA. [102][103][104] Following exposure to DNA crosslinking agents, ATR and FANCD2 co-localize in nuclear foci. 98,105 ATR also promotes efficient DNA damageinducible FANCD2 monoubiquitination and nuclear foci formation.…”

Section: Fancd2 Phosphorylationmentioning

confidence: 99%

The Fanconi anemia ID2 complex: Dueling saxes at the crossroads

Boisvert

Howlett

2014

Cell Cycle

View full text Add to dashboard Cite

“…Hematological abnormalities include pancitopenia or aplastic anemia (19,20), but successful reduced-intensity bone marrow transplantation has been reported (20,21). A case of acute myeloid leukaemia has been described, with unfavorable evolution under treatment (22). Different endocrine abnormalities have been reported.…”

Section: Discussionmentioning

confidence: 97%

A case of severe growth retardation, probably Seckel syndrome

Dumitrescu¹

2010

Acta Endo (Buc)

View full text Add to dashboard Cite

We report the case of a 6.6 years old boy, born to healthy unrelated parents, from a normal pregnancy, admitted for severe growth retardation. His height was 71 cm (-9.3 SD), with a weight of 6.6 kg and he presented a triunghiular face, mycrognatia, proeminent nose and hypertelorism resulting in a "bird headed" profile. He associated clinodactyly of the 5 th finger and a slightly longer left leg. Tanner stages were P1 G1. The biochemical panel was normal, but he presented mild hypocromic anemia. The thyroid function was normal, and the IGF1 low. The karyotype was 46 XY and the bone age 4.5 years. The pituitary computed tomography revealed empty sella. Based on the clinical picture, the possible diagnosis of Seckel syndrome was suspected. A short course of treatment with Metandienonum 0.04 mg/kg/day for 3 months was recommended, without success (growth speed of 6 cm/year --0.14 SD)

show abstract

Acute myeloid leukaemia in a patient with Seckel syndrome.

Cited by 44 publications

References 6 publications

Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two Patients with Seckel syndrome

Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two Patients with Seckel syndrome

The Fanconi anemia ID2 complex: Dueling saxes at the crossroads

A case of severe growth retardation, probably Seckel syndrome

Contact Info

Product

Resources

About