ABCMdb

PMID: 22326269

Park JA, Jun KR, Han SH, Kim GH, Yoo HW, Hur YJ
A novel mutation in the ABCD1 gene of a Korean boy diagnosed with X-linked adrenoleukodystrophy.
Gene. 2012 Apr 25;498(1):131-3. Epub 2012 Feb 1., [PubMed]

Sentences

No. Mutations Sentence Comment

3 ABCD1 p.Tyr620His Direct sequencing for the ABCD1 gene in this boy and his mother detected Tyr620His missense mutation, caused by cDNA nucleotide change 1858 T>C in exon 8 (c.1858T>C). Login to comment 17 ABCD1 p.Tyr620His This patient had a positive family history and a novel missense point mutation in the ABCD1 gene (Tyr620His). Login to comment 54 ABCD1 p.Tyr620His DNA sequencing of the complete ABCD1 gene coding region revealed a novel Tyr620His missense mutation, caused by cDNA nucleotide change 1858 T>C in exon 8 (c.1858T>C). Login to comment 55 ABCD1 p.Tyr620His DNA sequencing of the complete ABCD1 gene coding region revealed a novel Tyr620His missense mutation, caused by cDNA nucleotide change 1858 T>C in exon 8 (c.1858T>C). Login to comment 56 ABCD1 p.Tyr620His The PolyPhen and SIFT programs predicted Tyr620His (c.1858T>C) to be possibly damaging (PSIC score=2.413) and affecting protein function, respectively. Login to comment 57 ABCD1 p.Tyr620His The PolyPhen and SIFT programs predicted Tyr620His (c.1858T>C) to be possibly damaging (PSIC score=2.413) and affecting protein function, respectively. Login to comment 63 ABCD1 p.Tyr620His ABCD1 p.Tyr620His Our case had a novel Tyr620His (Y620H) missense mutation caused by the cDNA nucleotide transition 1858 T>C. This boy was diagnosed with childhood cALD and showed very rapidly progressing neurodevelopmental regression; it was only 9 months from when he first started showing abnormalities suggesting X-ALD to being in a bed-ridden state. Login to comment 64 ABCD1 p.Tyr620His ABCD1 p.Tyr620His ABCD1 p.Tyr620His Our case had a novel Tyr620His (Y620H) missense mutation caused by the cDNA nucleotide transition 1858 T>C. This boy was diagnosed with childhood cALD and showed very rapidly progressing neurodevelopmental regression; it was only 9 months from when he first started showing abnormalities suggesting X-ALD to being in a bed-ridden state. Login to comment 65 ABCD1 p.Tyr620His Unfortunately his male cousin on the mother's side had not been tested for the ABCD1 gene mutation; however, considering that his mother had the same Tyr620His missense mutation, they were likely to have this same mutation. Login to comment 66 ABCD1 p.Arg389His On the other hand, one Dutch family was identified with the Arg389His (c.1166G>A) missense mutation with normal levels of ALDP. Login to comment 67 ABCD1 p.Arg389His On the other hand, one Dutch family was identified with the Arg389His (c.1166G>A) missense mutation with normal levels of ALDP. Login to comment 83 ABCD1 p.Tyr620His The mutation found in our patient (Tyr620His) was located in exon 8, which contains the ATP-binding domain. Login to comment 84 ABCD1 p.Tyr620His The mutation found in our patient (Tyr620His) was located in exon 8, which contains the ATP-binding domain. Login to comment 91 ABCD1 p.Tyr620His ABCD1 p.Tyr620His In conclusion, our case was revealed to have a novel Tyr620His (Y620H) ABCD1 gene missense mutation caused by the cDNA nucleotide transition 1858 T>C. This mutation was located on exon 8, containing the ATP-binding domain. Login to comment 92 ABCD1 p.Tyr620His ABCD1 p.Tyr620His In conclusion, our case was revealed to have a novel Tyr620His (Y620H) ABCD1 gene missense mutation caused by the cDNA nucleotide transition 1858 T>C. This mutation was located on exon 8, containing the ATP-binding domain. Login to comment 93 ABCD1 p.Tyr620His Our case showed that the Tyr620His missense mutation caused very rapidly progressing childhood cerebral ALD. Login to comment 94 ABCD1 p.Tyr620His Our case showed that the Tyr620His missense mutation caused very rapidly progressing childhood cerebral ALD. Login to comment