103 Heterozygous Cystic Fibrosis Cases With Abnormal Fetal Bowel at Ultrasound Examination Cases CFTR Gene mutations Ultrasound findings Outcome 22-27 DF508/X Hyperechogenic bowel Birth, thriving 28-29 DF508/X Hyperechogenic bowel Premature birth (32 wks), thriving 30 DF508/X Hyperechogenic bowel TOP cardiomegaly þ pulmonary hypoplasia 31 DF508/X Hyperechogenic bowel Lost to follow-up 32 DF508/X Hyperechogenic bowel þ short femur Died day 2 after birth, fetal distress 33 DF508/X Intestinal dilated loops Birth, thriving 34 DF508/X Hyperechogenic bowel þ fetal hydrops Birth, parvovirus-affected, thriving 35 DF508/X Intra-abdominal calcifications Birth, thriving 36 G542X/X Hyperechogenic bowel þ polyhydramnios Birth, thriving 37 R117H/X Hyperechogenic bowel Birth, thriving 38 A534E/X Hyperechogenic bowel Birth, thriving 39 D836Y/X Dilated loop (small bowel) þ polyhydramnios Birth, small bowel atresia, operated, not CF-affected In the present study, most CF cases with intestinal anomalies (15/20) were observed during the second trimester of pregnancy, because in France all pregnant women undergo ultrasound examinations at 11, 22, and 33 weeks.

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ABCC7 p.Ala534Glu 12116247:103:800

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93 Characteristics of 15 Amino Acid Variants/Mutants in the CFTR Gene Detected in 21 Patients With Asthma Other Evolutive Conservative Other mutations Mutation1 Reference2 Exon Domain3 Patients4 phenotypes5 conservation6 change7 at same position R74W Claustres et al., 1993 3 IC1 1 CF-PS/CBAVD b, m, r, s NC - R75Q Zielenski et al., 1991 3 IC2 4 CF-PS/DB/CBAVD/ b, d, m, r, s, x NC R75X (CF) CF Parents R75L (CBAVD) I148T Bozon et al., 1994 4 IC2 1 CF-PS b, d, m, r, s, x NC I148N (CF) A534Q This report 11 NBF1 1 - b, m NC A534E (CF) G576A Fanen et al., 1992 12 NBF1 3 CF-PS/CBAVD b, m, r, s NC G576X (CF) T582R Casals et al., 1997 12 NBF1 1 CF-PS b, d, m, r, s, x NC T582I (CF) R668C Fanen et al., 1992 13 R 5 DB/CF-PS/CBAVD/ b, d, m, r, s, x NC - CF Parents V855I This report 14a IC6 1 - b, r, s C - T896I This report 15 EC4 1 - b, d, m, r, s NC - L997F Fanen et al., 1992 17a TM9 3 DB/CF-PS/CBAVD/ b, d, m, r, s, x C - non-CF M1028R This report 17a TM10 1 - d NC M1028I (CF) T2066C Fanen et al., 1992 17b IC8 1 DB/CF-PI b, d, m, r, s, x NC R1066S (CF) R1066L (CF) R1066H (CF/CBAVD) T1142I This report 18 TM12 1 - b, d, m, r, s, x NC - R1162L Fanen et al., 1992 19 IC9 1 non-CF b, d, m, r, s, x NC R1162X (CF) T1220I Ghanem et al., 1994 19 NBF2 1 DB/non-CF b, d NC - 1 Mutation name according to the Cystic Fibrosis Genetic Analysis Consortium.

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ABCC7 p.Ala534Glu 10571949:93:521

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79 Lane 1: 3850-1 G-A, Lane 2: Q1238X, Lane 3: 2622 + 1 G-A, Lane 4: A349V, Lane 5: A534E. recently by DGGE resulting in high mutation detection rates, such as 95% in the factor Vm gene (25) or over 98% in the CFTR gene of the Breton population in the Celtic part of Brittany.

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ABCC7 p.Ala534Glu 7683952:79:81

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92 For the four other mutations: R347L and A349V in exon 7, A534E in exon 11 and 3601 -17 T - C, we have only indirect evidence in support of their being causative of disease: (i) these changes have never been observed on more than 300 non CF chromosomes so far examined (this panel of non CF chromosomes has been established from a series of non CF chromosomes, the normal alleles being deduced from non carrier siblings of non affected children); (ii) the missense mutations result in a switch to an amino acid of different polarity at that site; and (iii) the amino acids 347 (arginine) and 534 (alanine) are conserved in the CFTR of human, cow, Xenopus, mouse and dogfish, and the amino acid 349 (alanine) is conserved in the CFTR of human, cow and Xenopus (20).

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ABCC7 p.Ala534Glu 7683952:92:57

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