China
Africa
Explore chapters and articles related to this topic
Cardiac and cardiovascular disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Congenital rubella and preterm delivery must be considered. In their absence, the recurrence risk of patent ductus arteriosus varies considerably between series, but 3% seems a reasonable figure for sibs. The similar overall risk to offspring seems to mask a higher maternal risk of around 4%. A rare, dominantly inherited form exists (Char syndrome) with distinctive facial features.
KCTD1 and Scalp-Ear-Nipple (‘Finlay–Marks’) syndrome may be associated with myopia and Thin basement membrane nephropathy through an effect on the collagen IV α3 and α4 chains
Published in Ophthalmic Genetics, 2023
Dongmao Wang, Paul Trevillian, Stephen May, Peter Diakumis, Yanyan Wang, Deb Colville, Melanie Bahlo, Una Greferath, Erica Fletcher, Barbara Young, Heather G. Mack, Judy Savige
KCTD1 is a transcriptional repressor or activator of TFAP2α, TFAP2β, and TFAP2γ (10). Mutations in the TFAP2 genes inform our understanding of the mechanisms underlying KCTD1 mutations. TFAP2A mutations result in the Branchio-Oculo-Facial syndrome (OMIM 113,620), with branchial and periauricular skin defects, and sometimes microophthalmia or anopthalmia, coloboma, hypertelorism, cleft lip, cleft palate, prominent ears, and hearing loss (11). Renal cysts and aplasia may occur. Mutations in the TFAP2B gene result in Char syndrome (12) (OMIM 169,100), with facial abnormalities, patent ductus arteriosus, and aplasia/hypoplasia of the fifth finger middle phalanges (13) together with hearing loss, multiple nipples (14), syndactyly (15,16), and sometimes myopia (17), strabismus (squint) (17) and coloboma. There may be supernumerary nipples (14), and absent second and third molar teeth (17,18). Mice with a targeted loss of Tfap2β have multiple renal cysts (19). The effects of TFAP2C on apoptosis and Wnt signalling may also contribute to kidney cyst formation (20).