The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21–q24

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Autosomal recessive Meckel syndrome (OMIM 249000) (MES), first described in 1822 by Johann F. Meckel1, is a major monogenic malformation syndrome with a neural tube defect leading to death of the fetus in utero or shortly after birth. The hallmarks of the syndrome are occipital meningo-encephalocele, very large kidneys with multicystic dysplasia, cystic and fibrotic changes of the liver and polydactyly2,3 (Fig. 1). Other typical malformations for MES are cleft lip and palate, urinary tract anomalies, ambiguous genitals in the males and club feet. Although MES has been reported worldwide, reports on the true birth prevalence of MES in different populations are scarce. In Finland MES is effectively screened and relatively frequent with a birth prevalence of 1:9,000 and a disease gene frequency of 0.01 (ref. 4) which is of the same order of magnitude as that of the most common recessive diseases belonging to the ‘Finnish disease heritage’, that is genetic disorders enriched or only encountered in Finland. However, in MES, comparable or even higher incidences are also reported from other populations4–6. Here, we report the assignment of the MES locus to chromosome 17q21–q24 in the 13 cM region, and exclude some of the potential candidate genes located in this critical chromosomal region.

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Paavola, P., Salonen, R., Weissenbach, J. et al. The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21–q24. Nat Genet 11, 213–215 (1995) doi:10.1038/ng1095-213

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