ABCMdb

PMID: 12124706

Orgad S, Berkenstadt M, Achiron R, Yahav Y, Gazit E, Barkai G, Loewenthal R
Hyperechogenic bowel loops and meconium ileus in a fetus carrying the D1152H and G542X cystic fibrosis CFTR mutations.
Prenat Diagn. 2002 Jul;22(7):636-7., [PubMed]

Sentences

No. Mutations Sentence Comment

20 ABCC7 p.Gly542* ABCC7 p.Asp1152His Hyperechogenic bowel loops and meconium ileus in a fetus carrying the D1152H and G542X cystic fibrosis CFTR mutations In the Jewish cystic fibrosis (CF) patient population, 12 mutations account for more than 91% of the CF chromosomes. Login to comment 21 ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Ashkenazi Jews were tested in the past only for F508del, W1282X, G542X, N1303K and 3849+10KbC>T of the cystic fibrosis transmembrane conductance regulator (CFTR) gene (Kerem et al., 1995, 1997; Abeliovich et al., 1992, 1996). Login to comment 22 ABCC7 p.Asp1152His Until the year 2000 the mutation D1152H was tested only for individuals from Morocco, Iran and Buchara. Login to comment 23 ABCC7 p.Asp1152His However, we have recently found that the mutation D1152H is the third most prevalent mutation in Ashkenazi and other Jewish ethnic groups (Orgad et al., 2001). Login to comment 32 ABCC7 p.Gly542* Since the US finding was compatible with CF, DNA from the woman was analysed and was found to carry the G542X CFTR mutation. Login to comment 33 ABCC7 p.Asp1152His ABCC7 p.Asp1152His Since the D1152H mutation was not tested for previously, we tested the father and found that indeed he was a carrier of D1152H. Login to comment 39 ABCC7 p.Asp1152His The D1152H mutation is caused by a guanine to cytosine substitution at nucleic acid position 3586 of the CFTR gene, resulting in replacement of aspartic acid by histidine at amino acid 1152 of the protein (Highsmith et al., 1994). Login to comment 42 ABCC7 p.Asp1152His Therefore, the D1152H mutation may cause variable manifestations of cystic fibrosis, some may indeed be severe. Login to comment 43 ABCC7 p.Asp1152His This case emphasizes the importance of expanding the prenatal diagnosis of the CFTR gene and the need for inclusion of the D1152H mutation in screening. Login to comment 44 ABCC7 p.Asp1152His The prevalence of the D1152H mutation in the Jewish population comprises 5.2% of all the CFTR mutations (Orgad et al., 2001). Login to comment