ABCMdb

PMID: 22724884

Kazandi M, Turan V, Selvi Demirtas G, Akercan F, Aykut A, Ozkinay F
Mid-trimester hyperechogenic bowel in a fetus of Turkish origin carrying a rarely seen mutation of cystic fibrosis.
Arch Iran Med. 2012 Jul;15(7):449-51. doi: 012157/AIM.0015., [PubMed]

Sentences

No. Mutations Sentence Comment

7 ABCC7 p.Asp110His Once the most frequent mutations have been accounted for, rarer mutations should be investigated.10 In this study we present a fetus with hyperechogenic bowel carrying a rarely seen compound heterozygous mutation of p.IIe1000fsX1001 and p.Asp110His in the CFTR gene. Login to comment 13 ABCC7 p.Asp110His Also p.Asp110His mutation was identified whe- UH WKH F* ! Login to comment 16 ABCC7 p.Asp110His The result was consistent with Asp110His heterozygous mutation. Login to comment 17 ABCC7 p.Asp110His The result was consistent with Asp110His heterozygous mutation. Login to comment 38 ABCC7 p.Asp110His ABCC7 p.Asp110His The cases that have previously reported the p.Asp110His mutation were prone to severe salt loss upon exposure to heat or exercise, were overweight and had normal lung function.15 There have been several reports about a mild CF phenotype of isolated hypotonic dehydration associated with specific CFTR mutations, including p.Asp110His.16-18 An Iranian study on males with congenital bilateral absence of the vas deferens (CVDA) showed the c.3130delA mutation with a frequency of 2.9%.19 In the present study, following termination of pregnancy, paternal and maternal mutations were detected in molecular studies. Login to comment 39 ABCC7 p.Asp110His ABCC7 p.Asp110His The cases that have previously reported the p.Asp110His mutation were prone to severe salt loss upon exposure to heat or exercise, were overweight and had normal lung function.15 There have been several reports about a mild CF phenotype of isolated hypotonic dehydration associated with specific CFTR mutations, including p.Asp110His.16-18 An Iranian study on males with congenital bilateral absence of the vas deferens (CVDA) showed the c.3130delA mutation with a frequency of 2.9%.19 In the present study, following termination of pregnancy, paternal and maternal mutations were detected in molecular studies. Login to comment