ABCA12 p.Val1089Phe
| Predicted by SNAP2: | A: D (53%), C: N (53%), D: D (80%), E: D (75%), F: D (71%), G: D (71%), H: D (71%), I: N (53%), K: D (75%), L: D (66%), M: D (59%), N: D (71%), P: D (66%), Q: D (80%), R: D (75%), S: D (53%), T: D (59%), W: D (75%), Y: D (75%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: N, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, W: D, Y: D, |
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[hide] Harlequin ichthyosis: a review of clinical and mol... Arch Dermatol. 2011 Jun;147(6):681-6. Epub 2011 Feb 21. Rajpopat S, Moss C, Mellerio J, Vahlquist A, Ganemo A, Hellstrom-Pigg M, Ilchyshyn A, Burrows N, Lestringant G, Taylor A, Kennedy C, Paige D, Harper J, Glover M, Fleckman P, Everman D, Fouani M, Kayserili H, Purvis D, Hobson E, Chu C, Mein C, Kelsell D, O'Toole E
Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.
Arch Dermatol. 2011 Jun;147(6):681-6. Epub 2011 Feb 21., [PMID:21339420]
Abstract [show]
OBJECTIVE: To assess the clinical outcomes of 45 cases of harlequin ichthyosis and review the underlying ABCA12 gene mutations in these patients. DESIGN: Multicenter, retrospective, questionnaire-based survey. SETTING: Dermatology research institute. PARTICIPANTS: Patients with harlequin ichthyosis for whom we had performed ABCA12 mutation analysis. MAIN OUTCOME MEASURES: Referring physicians were asked to complete a questionnaire using the patients' notes, detailing the clinical outcome of the affected child. In each case, the causative ABCA12 mutation was identified using standard polymerase chain reaction and sequencing techniques. RESULTS: Of the 45 cases, the ages of the survivors ranged from 10 months to 25 years, with an overall survival rate of 56%. Death usually occurred in the first 3 months and was attributed to sepsis and/or respiratory failure in 75% of cases. The early introduction of oral retinoids may improve survival, since 83% of those treated survived, whereas 76% who were not given retinoids died. Recurrent skin infections in infancy affected one-third of patients. Problems maintaining weight affected 44%. Three children developed an inflammatory arthritis, and developmental delay was reported in 32%. Mutation analysis revealed that 52% of survivors had compound heterozygous mutations, whereas all deaths were associated with homozygous mutations. CONCLUSIONS: Harlequin ichthyosis should be regarded as a severe chronic disease that is not invariably fatal. With improved neonatal care and probably the early introduction of oral retinoids, the number of survivors is increasing. Compound heterozygotes appear to have a survival advantage.
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No. Sentence Comment
177 In our series, 2 missense mutations were identified, namely V1089F in exon 23 combined with a splice site mutation in exon 33 in one patient, and G1179R (homozygous) in exon 24 of another patient.
X
ABCA12 p.Val1089Phe 21339420:177:60
status: NEW179 In our series, 2 missense mutations were identified, namely V1089F in exon 23 combined with a splice site mutation in exon 33 in one patient, and G1179R (homozygous) in exon 24 of another patient.
X
ABCA12 p.Val1089Phe 21339420:179:60
status: NEW