ABCMdb

PMID: 21700483

Wang Y, Busin R, Reeves C, Bezman L, Raymond G, Toomer CJ, Watkins PA, Snowden A, Moser A, Naidu S, Bibat G, Hewson S, Tam K, Clarke JT, Charnas L, Stetten G, Karczeski B, Cutting G, Steinberg S
X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.
Mol Genet Metab. 2011 Sep-Oct;104(1-2):160-6. Epub 2011 Jun 22., [PubMed]

Sentences

No. Mutations Sentence Comment

84 ABCD1 p.Ser633Arg Family 1 The male proband in this family (Family 1-1) presented with features consistent with X-ALD. Plasma VLCFA levels were consistent with the biochemical defect for X-ALD and molecular analysis identified the ABCD1 mutation c.1899CNA (p.Ser633Arg) (Fig. 1A). Login to comment 85 ABCD1 p.Ser633Ile The c.1899CNA transversion has been reported in one other family [19], and another amino acid substitution, p.Ser633Ile, also has been reported in another family [20]. Login to comment 90 ABCD1 p.Pro560Leu ABCD1 p.Pro560Leu ABCD1 p.Ser606Pro ABCD1 p.Ala626Thr ABCD1 p.Gly266Arg ABCD1 p.Arg617His ABCD1 p.Arg401Trp ABCD1 p.Ser633Arg ABCD1 p.Thr632Pro ABCD1 p.Leu523Phe ABCD1 p.Glu640Lys ABCD1 p.Gly677Asp ABCD1 p.Gly266Gln ABCD1 p.Thr198Met ABCD1 p.Phe540Cys Previously reported (Yes/No) Number of pedigrees reporteda CpG (Yes/No) 25 c.124delC ND No 1 N/A 5 c.279_280ins12bp (p.Leu93_Leu94insGluThrGlyLeu) ND No 1 No 6 c.410G>A (p.Trp137X) ND No 1 No 7 c.412_414delCTC (p.Leu139del) ND Yes 2 No 26 c.476del24 ND No 1 N/A 4 c.593C>G (p.Thr198Met) N/A No 1 Yes 8 c.695_696insG (p.Ala233fsX67) ND No 1 Yes 2 c.725G>A (p.Trp242X) Gonosomal No 1 No c.796G>A (p.Gly266Arg) ND Yes 23 Yes 27 c.797G>A (p.Gly266Gln) ND No 1 No 12 c.944C>A (p.Ser315X) ND No 1 Yes 13 c.1201C>T (p.Arg401Trp) ND Yes 12 Yes 14 c.1225-2A>G (splice defect) ND No 1 No 15 c.1390C>T (p.Arg464X) ND Yes 11 Yes 16 c.1553G>A (p.Arg518 Gln) ND Yes 20 Yes 17 c.1567C>T (p.Leu523Phe) ND No 1 No 18 c.1609C>T (p.Gln537X) ND No 1 No 28 c.1619T>G (p.Phe540Cys) ND No 1 No 19 c.1679C>T (p.Pro560Leu) ND Yes 20 Yes 29 c.1679C>T (p.Pro560Leu) ND Yes 20 Yes 20 exon3 to exon10 deletion ND Yesb 9 N/A 30 c.1781-1G>A ND No 1 No 21 c.1816T>C (p.Ser606Pro) ND Yes 3 No 31 c.1850G>A (p.Arg617His) ND Yes 20 Yes 22 c.1876G>A (p.Ala626Thr) ND Yes 10 Yes 23 c.1894A>C (p.Thr632Pro) ND No 2 No 1 c.1899C>A (p.Ser633Arg) Gonosomal Yes 2 Yes 24 c.1918 G>A (p.Glu640Lys) ND No 2 No 3 c.2030G>A (p.Gly677Asp) Gonadal No 1 Yes de novo mutation in male index case with childhood cerebral X-ALD;somatic and/or gonadal mosaicisim; de novo mutationND = none detected; N/A = not applicable; Color codes: in female carrier. Login to comment 128 ABCD1 p.Gly677Asp (p.Gly677Asp). Login to comment 138 ABCD1 p.Thr198Met A single sequence change, c.593CNG (p.Thr198Met), was identified in the heterozygous state. Login to comment