ABCB6 p.Gln555Lys
| ClinVar: |
c.1663C>A
,
p.Gln555Lys
D
, Pathogenic
|
| Predicted by SNAP2: | A: D (71%), C: D (71%), D: D (85%), E: D (80%), F: D (80%), G: D (80%), H: D (75%), I: D (71%), K: D (63%), L: D (80%), M: D (75%), N: D (75%), P: D (85%), R: D (53%), S: D (71%), T: D (59%), V: D (59%), W: D (85%), Y: D (80%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Novel mutations of ABCB6 associated with autosomal... PLoS One. 2013 Nov 5;8(11):e79808. doi: 10.1371/journal.pone.0079808. eCollection 2013. Cui YX, Xia XY, Zhou Y, Gao L, Shang XJ, Ni T, Wang WP, Fan XB, Yin HL, Jiang SJ, Yao B, Hu YA, Wang G, Li XJ
Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria.
PLoS One. 2013 Nov 5;8(11):e79808. doi: 10.1371/journal.pone.0079808. eCollection 2013., [PMID:24224009]
Abstract [show]
OBJECTIVE: Dyschromatosis universalis hereditaria (DUH) is a rare heterogeneous pigmentary genodermatosis, which was first described in 1933. The genetic cause has recently been discovered by the discovery of mutations in ABCB6. Here we investigated a Chinese family with typical features of autosomal dominant DUH and 3 unrelated patients with sporadic DUH. METHODS: Skin tissues were obtained from the proband, of this family and the 3 sporadic patients. Histopathological examination and immunohistochemical analysis of ABCB6 were performed. Peripheral blood DNA samples were obtained from 21 affected, 14 unaffected, 11 spouses in the family and the 3 sporadic patients. A genome-wide linkage scan for the family was carried out to localize the causative gene. Exome sequencing was performed from 3 affected and 1 unaffected in the family. Sanger sequencing of ABCB6 was further used to identify the causative gene for all samples obtained from available family members, the 3 sporadic patients and a panel of 455 ethnically-matched normal Chinese individuals. RESULTS: Histopathological analysis showed melanocytes in normal control's skin tissue and the hyperpigmented area contained more melanized, mature melanosomes than those within the hypopigmented areas. Empty immature melanosomes were found in the hypopigmented melanocytes. Parametric multipoint linkage analysis produced a HLOD score of 4.68, with markers on chromosome 2q35-q37.2. A missense mutation (c.1663 C>A, p.Gln555Lys) in ABCB6 was identified in this family by exome and Sanger sequencing. The mutation perfectly cosegregated with the skin phenotype. An additional mutation (g.776 delC, c.459 delC) in ABCB6 was found in an unrelated sporadic patient. No mutation in ABCB6 was discovered in the other two sporadic patients. Neither of the two mutations was present in the 455 controls. Melanocytes showed positive immunoreactivity to ABCB6. CONCLUSION: Our data add new variants to the repertoire of ABCB6 mutations with DUH.
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No. Sentence Comment
12 A missense mutation (c.1663 C>A, p.Gln555Lys) in ABCB6 was identified in this family by exome and Sanger sequencing.
X
ABCB6 p.Gln555Lys 24224009:12:35
status: NEW91 5496 C>A, c.1663C > A, p. Gln555Lys in exon 11 of ABCB6 (Figure 3A) was further identified in the 21 affected members, but absent in the 14 unaffected members from the family and completely cosegregated with the skin phenotype. An additional mutation in exon 1 of ABCB6 (g.776 delC, c.459 delC) was detected (Figure 3B) in an unrelated sporadic patient with typical DUH (Figure 1C), however, no mutation in ABCB6 was found in the other two patients.
X
ABCB6 p.Gln555Lys 24224009:91:26
status: NEW106 Discussion In the study, we found a c. 1663 C>A, p.Gln555Lys heterozygous mutation of ABCB6 in exon 11, which perfectly cosegregated with the disorder in the family.
X
ABCB6 p.Gln555Lys 24224009:106:51
status: NEW[hide] Novel missense mutations of ABCB6 in two chinese f... J Dermatol Sci. 2014 Dec;76(3):255-8. doi: 10.1016/j.jdermsci.2014.08.015. Epub 2014 Sep 11. Lu C, Liu J, Liu F, Liu Y, Ma D, Zhang X
Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria.
J Dermatol Sci. 2014 Dec;76(3):255-8. doi: 10.1016/j.jdermsci.2014.08.015. Epub 2014 Sep 11., [PMID:25288164]
Abstract [show]
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No. Sentence Comment
51 frameshift mutations in ABCB6 have been reported to be responsible for DUH (p.S170G, p.S322K, p.L356P, p.A453V, p.Q555K, p.G579E and c.459delC) [6-8].
X
ABCB6 p.Gln555Lys 25288164:51:114
status: NEW