| | |  | | | | Record from Web of Science® | | | | | | |
| Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome |
|
|
| Author(s): Karmous-Benailly H, Martinovic J, Gubler MC, Sirot Y, Clech L, Ozilou C, Auge J, Brahimi N, Etchevers H, Detrait E, Esculpavit C, Audollent S, Goudefroye G, Gonzales M, Tantau J, Loget P, Joubert M, Gaillard D, Jeanne-Pasquier C, Delezoide AL, Peter MO, Plessis G, Simon-Bouy B, Dollfus H, Le Merrer M, Munnich A, Encha-Razavi F, Vekemans M, Attie-Bitach T |
| Source: AMERICAN JOURNAL OF HUMAN GENETICS Volume: 76 Issue: 3 Pages: 493-504 Published: MAR 2005 |
| Times Cited: 34 References: 53 |
| Abstract: Bardet-Biedl syndrome (BBS) is a multisystemic disorder characterized by postaxial polydactyly, progressive retinal dystrophy, obesity, hypogonadism, renal dysfunction, and learning difficulty. Other manifestations include diabetes mellitus, heart disease, hepatic fibrosis, and neurological features. The condition is genetically heterogeneous, and eight genes (BBS1 - BBS8) have been identified to date. A mutation of the BBS1 gene on chromosome 11q13 is observed in 30% - 40% of BBS cases. In addition, a complex triallelic inheritance has been established in this disorder - that is, in some families, three mutations at two BBS loci are necessary for the disease to be expressed. The clinical features of BBS that can be observed at birth are polydactyly, kidney anomaly, hepatic fibrosis, and genital and heart malformations. Interestingly, polydactyly, cystic kidneys, and liver anomalies ( hepatic fibrosis with bile-duct proliferation) are also observed in Meckel syndrome, along with occipital encephalocele. Therefore, we decided to sequence the eight BBS genes in a series of 13 antenatal cases presenting with cystic kidneys and polydactyly and/or hepatic fibrosis but no encephalocele. These fetuses were mostly diagnosed as having Meckel or "Meckel-like" syndrome. In six cases, we identified a recessive mutation in a BBS gene ( three in BBS2, two in BBS4, and one in BBS6). We found a heterozygous BBS6 mutation in three additional cases. No BBS1, BBS3, BBS5, BBS7, or BBS8 mutations were identified in our series. These results suggest that the antenatal presentation of BBS may mimic Meckel syndrome. |
| Document Type: Article |
| Language: English |
| Reprint Address: Attie-Bitach, T (reprint author), Hop Necker Enfants Malad, Dept Genet, AP HP, Paris, France |
Addresses:
1. Hop Necker Enfants Malad, Dept Genet, AP HP, Paris, France
2. Hop Necker Enfants Malad, INSERM, U393, Paris, France
3. Hop Necker Enfants Malad, INSERM, U574, Paris, France
4. Hop Univ Strasbourg, Federat Genet Med, Strasbourg, France
5. Univ Versailles, Ctr Etud Biol Prenatale, Lab Cytogenet, F-78000 Versailles, France
6. Ctr Hosp Mulhouse, Serv Pediat, Mulhouse, France
7. CHU Caen, Serv Genet, F-14000 Caen, France
8. CHU Cote, Serv Anat Pathol, Nacre, France
9. Hop Maison Blanche, Lab Pol Bouin, Reims, France
10. CHU Nantes, F-44035 Nantes, France
11. Cabinet Anat & Cytol Pathol Richier, Rennes, France
12. Hop Robert Debre, AP HP, Serv Biol Dev, F-75019 Paris, France
13. Hop St Antoine, AP HP, Lab Embryol Pathol, F-75571 Paris, France |
| Publisher: UNIV CHICAGO PRESS, 1427 E 60TH ST, CHICAGO, IL 60637-2954 USA |
| Subject Category: Genetics & Heredity |
| IDS Number: 895HO |
| ISSN: 0002-9297 |
|
| | | | | | | | | Record from Web of Science® | | | | | | | | | |