Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS)

Hori, Toshinori; Tomatsu, Shunji; Nakashima, Yoshihiro; Uchiyama, Atsushi; Fukuda, Seiji; Sukegawa, Kazuko; Shimozawa, Nobuyuki; Suzuki, Yasuyuki; Kondo, Naomi; Horiuchi, T; Ogura, Satoshi; Orii, Tadao

doi:10.1016/0888-7543(95)80172-i

Cited by 44 publications

(25 citation statements)

References 35 publications

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“…In addition to LCRs, highly repetitive elements, such as the Alu family of short interspersed repetitive elements, have also been found frequently at breakpoint junctions [Deininger and Batzer, 1999]. The presence of short direct repeats of a few nucleotides has also been observed at rearrangement termini [e.g., Henthorn et al, 1990;Kornreich et al, 1990;Love et al, 1991;Hori et al, 1995;Jalanko et al, 1995;Dabora et al, 2000]. Molecular characterization of such rearrangements may provide further insight into the mechanisms involved in homologous and nonhomologous recombinational events in humans.…”

Section: Introductionmentioning

confidence: 96%

Characterization of breakpoint sequences of five rearrangements inL1CAM andABCD1 (ALD) genes

et al. 2002

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Mutations in L1CAM are responsible for X-linked hydrocephalus, whereas those in the ALD gene (ABCD1) cause adrenoleukodystrophy. In both genes, most of the mutations reported so far are short-length mutations and only a few patients with larger rearrangements have been documented. We have characterized three intragenic deletions of the ALD gene at the molecular level and describe here the first two L1CAM rearrangements resulting in deletion of several exons in one case and about 50 kb, including the entire gene, in the second case. At both breakpoints of an ALD deletion, Alu repeats have been found and, additionally, a short Alu region of approximately 130 bp was inserted, suggesting that this rearrangement is the result of a more complex non-allelic homologous recombination event. Only one Alu element was present at the breakpoint of the second ALD rearrangement, including a 26-bp Alu core sequence that was suggested to be a recombinogenic hot spot. These data suggest the involvement of an Alu core sequence-stimulated non-homologous recombination as a possible cause for this rearrangement. Short direct repeats were identified at all putative mispaired sequences in the L1CAM breakpoints and at both breakpoints of the third ALD deletion characterized, suggesting non-homologous (illegitimate) recombination as the molecular mechanism by which these latter deletions occurred. In conclusion, our results indicate that highly repetitive elements as well as short direct repeats are frequently involved in the formation of ALD and L1CAM gene rearrangements.

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Section: Introductionmentioning

confidence: 96%

Characterization of breakpoint sequences of five rearrangements inL1CAM andABCD1 (ALD) genes

et al. 2002

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“…Sixteen polymorphisms and 28 different mutations have been identified, including I113F, a common missense mutation in the Irish and a double gene deletion I113F in the Japanese (Iwata et al, 1995;Fukuda et al, 1992Fukuda et al, , 1996aTomatsu et al, 1994Tomatsu et al, a-d, 1995Tomatsu et al, a-e, 1996Hori et al, 1995;Ogawa et al, 1995).…”

Section: Introductionmentioning

confidence: 98%

Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene

Tomatsu¹,

Fukuda²,

Cooper³

et al. 1997

Hum. Mutat.

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“…Although premutation was suggested in the dystrophin gene (Hoop et al 1994), a simultaneous event of double deletions was proposed because of inversion between deletions in thalassemia patients (Jones et al 1981;Jennings et al 1985;Kulozik et al 1992). A mechanism of double deletions was less clear in cases with isolated growth hormone deficiency type1A and mucopolysaccharidosis type IVA (Goossens et al 1986;Hori et al 1995). The case with TD suggests that, like the cases with thalassemia, a simultaneous event mediated by the Alu-mediated recombination is a mechanism of double deletions.…”

Section: Discussionmentioning

confidence: 86%

Double deletions and missense mutations in the first nucleotide-binding fold of the ATP-binding cassette transporter A1 (ABCA1) gene in Japanese patients with Tangier disease

Guo

Inazu

et al. 2002

J Hum Genet

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Tangier disease (TD) is a rare autosomal recessive disease characterized by plasma high-density lipoprotein deficiency caused by an ATP-binding cassette transporter A1 (ABCA1) gene mutation. We describe three different mutations in Japanese patients with TD. The first patient was homozygous for double deletions of 1221 bp between intron 12 and 14 and 19.9 kb between intron 16 and 31. The breakpoint sequence analyses suggest that it is a simultaneous event caused by double-loop formation through multiple Alu. The second patient was homozygous for a novel mutation of A3198C in exon 19, resulting in Asn935His. The third patient was homozygous for A3199G of exon 19 that leads to Asn935Ser, which is the same mutation found in German and Spanish families. Both Asn mutations involved Walker A motif of the first nucleotidebinding fold.

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Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS)

Cited by 44 publications

References 35 publications

Characterization of breakpoint sequences of five rearrangements inL1CAM andABCD1 (ALD) genes

Characterization of breakpoint sequences of five rearrangements inL1CAM andABCD1 (ALD) genes

Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene

Double deletions and missense mutations in the first nucleotide-binding fold of the ATP-binding cassette transporter A1 (ABCA1) gene in Japanese patients with Tangier disease

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