A new locus for Seckel syndrome on chromosome 18p11.31-q11.2

Børglum, Anders D.; Balslev, Thomas; Haagerup, Annette; Birkebæk, Niels H; Binderup, Helle Glud; Kruse, Torben A.; Hertz, Jens Michael

doi:10.1038/sj.ejhg.5200701

Cited by 55 publications

(40 citation statements)

References 12 publications

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“…Also, the phenotypes of our patients were strikingly different than those of the SCKL2 patients, who had no receding forehead and heads not smaller as compared to other parameters. 5 However, a similarity was noted: Patient 9 in this study had café-au-lait spots as were also reported in all three patients in the SCKL2 family. The patients in Family 8 stood apart from the others with the severe mental and motor retardation that they exhibited.…”

Section: Discussionmentioning

confidence: 71%

“…Autozygosity mapping in two Pakistani families from the same village revealed the first gene locus SCKL1 in a 12-centi Morgan (cM) region at 3q22.1 -q24, 4 while a second locus SCKL2 was identified at 18p11.31 -q11.2 (30 cM) in a consanguineous family of Iraqi descent. 5 In addition, O'Driscoll et al 6 identified mutations in the DNA ligase IV gene in three unrelated patients, all with Seckellike features and pancytopenia, and designated the locus LIG4. We studied 13 unrelated Turkish Seckel families, 10 of which were informative, and report here a novel locus at 14q23, which we designated SCKL3.…”

Section: Introductionmentioning

confidence: 99%

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Is the novel SCKL3 at 14q23 the predominant Seckel locus?

et al. 2003

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Section: Discussionmentioning

confidence: 71%

Section: Introductionmentioning

confidence: 99%

Is the novel SCKL3 at 14q23 the predominant Seckel locus?

et al. 2003

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“…Some MR and MR syndromes have been mapped using consanguineous pedigrees, because in these families it is possible for rare mutations and tracts of flanking sequence to be homozygous-by-descent (HBD) in the affected individuals [Armfield et al, 1999;Vazza et al, 2000;Borglum et al, 2001;Piao et al, 2002;Thauvin-Robinet et al, 2002;Rajab et al, 2003]. However, consanguineous, or inbred, pedigrees also pose challenges for mapping studies.…”

Section: Introductionmentioning

confidence: 98%

Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13

Nolan

Chen

Das

et al. 2008

American J of Med Genetics Pt A

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Mental retardation (MR) occurs in approximately 3% of the population and therefore significantly impacts public health. Despite this relatively high prevalence, the specific causes of MR remain unknown in most cases, although both genetic and environmental factors are known to contribute. We describe a consanguineous family with autosomal recessive (AR) nonsyndromic MR (NSMR). Because the consanguinity of this family is complex, we explore alternative approaches for generating accurate estimates of the evidence for linkage in this family, and demonstrate evidence for linkage to chromosome 19p13 (lod score ranging from 1.2 to 3.5, depending on assumptions of allele frequencies). Fine mapping of the linked region defined a critical region of 3.6 Mb, which overlaps with a previously reported gene (CC2D1A) for MR. However, no mutations in the coding region of this gene are present in the family we describe. These results suggest that another gene causing autosomal recessive nonsyndromic MR (ARNSMR) is located within this genomic region.

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“…Fifteen individuals carrying heterozygous mutations in BRCA1 (P1-P15) (Fig. 1), two Fanconi anemia patients (P16 and P17), two previously described Seckel syndrome patients (P18 and P19) (54), and one RNF168-deficient patient (P22) presented with ataxia, microcephaly, and immunodeficiency (39) were included in the study. P16, who carried compound heterozygous mutations in BRCA2, presented with intrauterine growth retardation, short stature, and developed acute myelocytic leukemia at 21 mo of age (55).…”

Section: Methodsmentioning

confidence: 99%

Aberrant recombination and repair during immunoglobulin class switching in BRCA1-deficient human B cells

Björkman

Qvist

et al. 2015

Proc. Natl. Acad. Sci. U.S.A.

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Breast cancer type 1 susceptibility protein (BRCA1) has a multitude of functions that contribute to genome integrity and tumor suppression. Its participation in the repair of DNA double-strand breaks (DSBs) during homologous recombination (HR) is well recognized, whereas its involvement in the second major DSB repair pathway, nonhomologous end-joining (NHEJ), remains controversial. Here we have studied the role of BRCA1 in the repair of DSBs in switch (S) regions during immunoglobulin class switch recombination, a physiological, deletion/recombination process that relies on the classical NHEJ machinery. A shift to the use of microhomology-based, alternative end-joining (A-EJ) and increased frequencies of intra-S region deletions as well as insertions of inverted S sequences were observed at the recombination junctions amplified from BRCA1-deficient human B cells. Furthermore, increased use of long microhomologies was found at recombination junctions derived from E3 ubiquitin-protein ligase RNF168-deficient, Fanconi anemia group J protein (FACJ, BRIP1)-deficient, or DNA endonuclease RBBP8 (CtIP)-compromised cells, whereas an increased frequency of S-region inversions was observed in breast cancer type 2 susceptibility protein (BRCA2)-deficient cells. Thus, BRCA1, together with its interaction partners, seems to play an important role in repairing DSBs generated during class switch recombination by promoting the classical NHEJ pathway. This may not only provide a general mechanism underlying BRCA1's function in maintaining genome stability and tumor suppression but may also point to a previously unrecognized role of BRCA1 in B-cell lymphomagenesis.BRCA1 | nonhomologous end-joining | immunoglobulin class switch recombination | alternative end-joining | B cells

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A new locus for Seckel syndrome on chromosome 18p11.31-q11.2

Cited by 55 publications

References 12 publications

Is the novel SCKL3 at 14q23 the predominant Seckel locus?

Is the novel SCKL3 at 14q23 the predominant Seckel locus?

Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13

Aberrant recombination and repair during immunoglobulin class switching in BRCA1-deficient human B cells

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