Molecular genetics of hereditary diseases
Interactions with the Medical Genetics department allow the ascertainment of families with rare hereditary diseases. Studies aim at localizing the gene in the genome by means of linkage analysis, or physical mapping of chromosomal deletions or translocation breakpoints when available. The genomic interval is then inspected for candidate genes, which in turn are studied for mutations in affected family members. Examples of such rares diseases are primary microcephaly and congenital corneal dystrophy. The linkage analysis and candidate gene approach is also applied to complex inherited disorders like congenital athyreosis and primary pulmonary hypertension.
Main recent publications
Vilain C, Rydlewski C, Duprez L, Heinrichs C, Abramowicz M, Malvaux P, Renneboog B, Parma J, Costagliola S, Vassart G.
Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8.
J.Clin.Endocrinol.Metab 86:234-8 ( 2001).
Perry R, Heinrichs C, Bourdoux P, Khoury K, Szots F, Dussault JH, Vassart G, Van Vliet G.
Discordance of monozygotic twins for thyroid dysgenesis: implications for screening and for molecular pathophysiology.
J.Clin.Endocrinol.Metab 87:4072-7 (2002).
Smits G, Olatunbosun O, Delbaere A, Pierson R, Vassart G, Costagliola S.
Ovarian hyperstimulation syndrome due to a mutation in the follicle-stimulating hormone receptor. New England Journal of Medicine 349:760-6 (2003).
Vilain C, Libert F, Venet D, Costagliola S, Vassart G.
Small amplified RNA-SAGE: an alternative approach to study transcriptome from limiting amount of mRNA.
Nucleic Acids Research 31:24 (2003).
Meeus L, Gilbert B, Rydlewski C, Parma J, Roussie AL, Abramowicz M, Vilain C, Christophe D, Costagliola S, Vassart G.
Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid
J Clin.Endocrinol.Metab 89:4285-91 (2004).
Pichon B, Vankerckhove S, Bourrouillou G, Duprez L, Abramowicz MJ.
A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly.
Eur J Hum Genet 12(5):419-21 (2004).
Emiliani S, Gonzalez-Merino E, Englert Y, Abramowicz M.
Comparison of the validity of preimplantation genetic diagnosis for embryo chromosomal anomalies by fluorescence in situ hybridization on one or two blastomeres.
Genet Test 8(1):69-72 (2004).
Abramowicz MJ, Ribai P, Cordonnier M.
Congenital stationary night blindness : report of an autosomal recessive family and linkage analysis.
Am J Med GenetA 132:76-9 (2005).
Thomée C, Schubert SW, Parma J, Lê PQ, Hashemolhosseini S, Wegner M, Abramowicz MJ.
GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone.
J Clin Endocrinol Metab 90:2487-92 (2005).
Tunca Y, Vurucu S, Parma J, Akin R, Désir J, Baser I, Ergun A, Abramowicz M.
Prenatal diagnosis of primary microcephaly in two consanguineous families by confrontation of morphometry with DNA data.
Prenatal Diag, 26:449-453 (2006).