Phenotypic Characterization of the c.1679+1643G>T (1811+1643G>T) Mutation in Hispanic Cystic Fibrosis Patients
Abstract
:1. Introduction
2. Materials and Methods
3. Results
4. Discussion
Author Contributions
Funding
Conflicts of Interest
References
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Group 1 | Group 2 | Group 3 | |
---|---|---|---|
1811+1643G>T Homozygous | 1811+1643G>T Heterozygous | Hispanic CF Reference Group | |
Patients (n) | 2 | 2 | 30 |
Sex (male/female) | 0/2 | 1/1 | 21/9 |
Average age in months | 132.09 | 64.41 | 122.83 |
Average age at diagnosis in months (SD) | 39.89 (54.55) | 2.58 (1.42) | 18.44 (43.73) |
Positive cultures for PA (yes/no) | 1/1 | 0/2 | 12/17 |
Average BMI (kg/m2) (SD) | 17.29 (1.56) | 15.75 (1.34) | 18.48 (3.82) |
Positive cultures of Burkholderia cepacia (yes/no) | 0/2 | 0/2 | 0/30 |
Sweat chloride concentration (mmol/L) (SD) | 87.00 (2.83) | 100.50 (3.54) | 89.48 (22.46) |
Pancreatic insufficiency (yes/no) | 2/0 | 2/0 | 24/6 |
Mutation1/Mutation2 | Number of Subjects |
---|---|
N1303K/Unknown | 1 |
F508del/3876delA | 7 |
3120+1G->A/R1066C | 1 |
S549N/TG12/T5 | 1 |
F508del/1949del84 | 1 |
F508del/Unknown | 3 |
F508del/F508del | 6 |
Unknown/Unknown | 3 |
F508del/P205S | 1 |
3876delA/3876delA | 2 |
G542X/360-365insT | 1 |
F508del/R553X | 1 |
S549N/S549N | 1 |
TG11/NT3878 | 1 |
1811+1643G>T Homozygous n = 2 | 1811+1643G>T Heterozygous n = 2 | Hispanic CF Group n = 30 M (SD) | |||
---|---|---|---|---|---|
Patient 1 | Patient 2 | Patient 1 | Patient 2 | ||
Sex | Female | Female | Male | Female | |
Age at diagnosis (months) | 78.5 | 1.3 | 1.5 | 3.6 | 6.7 (9.0) |
Sweat test (mmol/L) | 89.0 | 85.0 | 98.0 | 103.0 | 88.2 (22.5) |
Average number of exacerbations/year | 2.3 | 4.3 | 0.5 | 1.5 | 1.2 (0.9) |
Average number of admissions/year | 0.50 | 2.30 | 0.75 | 0.50 | 0.50 (0.40) |
Age at first exacerbation (months) | 104.20 | 1.80 | 15.97 | 16.56 | 26.70 (2.60) |
Age at first admission (months) | 106.9 | 5.1 | 2.5 | 35 | 26.7 (3.0) |
Hemoptysis | No | Yes | No | No | 5 (16.7%) Yes |
Clubbing | Yes | Yes | Yes | Yes | 21 (70%) Yes |
DIOS | No | Yes | No | No | 5 (16.7%) Yes |
PI | Yes (PE1 < 100) | Yes (PE1 < 100) | Yes (PE1 < 100) | Yes (PE1 < 100) | 24 (80%) Yes |
Gastrostomy | No | Yes | No | No | 2 (6.7%) Yes |
Group 1 | Group 2 | Group 3 | ||
---|---|---|---|---|
1811+1643G>T Homozygous | 1811+1643G>T Heterozygous | Hispanic CF Reference Group | ||
FEV1 * | Mean | 46.50 * | 73.00 | 84.91 * |
SD | 16.263 | 9.899 | 20.805 | |
FEV1/FVC | Mean | 81.50 | 83.50 | 79.59 |
SD | 3.536 | 23.335 | 9.630 | |
FEF 25–75 | Mean | 37.50 | 77.50 | 67.32 |
SD | 20.506 | 58.690 | 32.079 | |
FVC * | Mean | 57.50 * | 81.00 | 95.36 * |
SD | 21.920 | 9.899 | 17.513 |
1811+1643G>T Homozygous n = 2 | 1811+1643G>T Heterozygous n = 2 | Hispanic CF Group n = 30 Rating (Majority %) | |||
---|---|---|---|---|---|
Patient 1 | Patient 2 | Patient 3 | Patient 4 | ||
Air trapping | 2 | 3 | 3 | 1 | 0 (62%) |
Linear markings | 2 | 4 | 3 | 2 | 2 (34%) |
Nodular cystic lesions | 2 | 4 | 2 | 2 | 0 (48%) |
Large lesions | 0 | 3 | 0 | 2 | 0 (65%) |
General severity | 2 | 4 | 2 | 2 | 2 (34%) |
Final score total | 17 | 7 | 15 | 15 | 18.3 (5.5%) * |
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Fanous, H.K.; Delgado-Villata, S.; Kovacs, R.; Shalaby-Rana, E.; Sami-Zakahri, I. Phenotypic Characterization of the c.1679+1643G>T (1811+1643G>T) Mutation in Hispanic Cystic Fibrosis Patients. Children 2018, 5, 91. https://doi.org/10.3390/children5070091
Fanous HK, Delgado-Villata S, Kovacs R, Shalaby-Rana E, Sami-Zakahri I. Phenotypic Characterization of the c.1679+1643G>T (1811+1643G>T) Mutation in Hispanic Cystic Fibrosis Patients. Children. 2018; 5(7):91. https://doi.org/10.3390/children5070091
Chicago/Turabian StyleFanous, Hani K., Silvia Delgado-Villata, Reka Kovacs, Eglal Shalaby-Rana, and Iman Sami-Zakahri. 2018. "Phenotypic Characterization of the c.1679+1643G>T (1811+1643G>T) Mutation in Hispanic Cystic Fibrosis Patients" Children 5, no. 7: 91. https://doi.org/10.3390/children5070091