TY - JOUR
T1 - Familial syndromic esophageal atresia maps to 2p23-p24
AU - Celli, Jacopo
AU - Van Beusekom, Ellen
AU - Hennekam, Raoul C.M.
AU - Gallardo, M. Esther
AU - Smeets, Dominique F.C.M.
AU - Rodríguez De Córdoba, Santiago
AU - Innis, Jeffrey W.
AU - Frydman, Moshe
AU - König, Rainer
AU - Kingston, Helen
AU - Tolmie, John
AU - Govaerts, Lutgarde C.P.
AU - Van Bokhoven, Hans
AU - Brunner, Han G.
N1 - Funding Information:
This study was supported by the Dutch Foundation for Scientific Research (Nederlandse Organisatie voor Wetenschappelijk Onderzoek) grant 901-04-183 (to H.G.B.), and the Dutch Liver-Gut Foundation, grant WS 97-81 (to H.v.B.). The skillful assistance of Saskia van de Velde-Visser, Liesbeth Boender-van Rossum, Bellinda van der Helm, Gerard Merkx, and Irene Janssen is gratefully acknowledged. We thank Dr. Hans Scheffer, Rijkuniversiteit Groningen, for chromosome 13 mapping.
PY - 2000
Y1 - 2000
N2 - Esophageal atresia (EA) is a common life-threatening congenital anomaly that occurs in 1/3,000 newborns. Little is known of the genetic factors that underlie EA. Oculodigitoesophageoduodenal (ODED) syndrome (also known as 'Feingold syndrome') is a rare autosomal dominant disorder with digital abnormalities, microcephaly, short palpebral fissures, mild learning disability, and esophageal/duodenal atresia. We studied four pedigrees, including a three-generation Dutch family with 11 affected members. Linkage analysis was initially aimed at chromosomal regions harboring candidate genes for this disorder. Twelve different genomic regions covering 15 candidate genes (~15% of the genome) were excluded from involvement in the ODED syndrome. A subsequent nondirective mapping approach revealed evidence for linkage between the syndrome and marker D2S390 (maximum LOD score 4.51 at recombination fraction 0). A submicroscopic deletion in a fourth family with ODED provided independent confirmation of this genetic localization and narrowed the critical region to 7.3 cM in the 2p23-p24 region. These results show that haploinsufficiency for a gene or genes in 2p23-p24 is associated with syndromic EA.
AB - Esophageal atresia (EA) is a common life-threatening congenital anomaly that occurs in 1/3,000 newborns. Little is known of the genetic factors that underlie EA. Oculodigitoesophageoduodenal (ODED) syndrome (also known as 'Feingold syndrome') is a rare autosomal dominant disorder with digital abnormalities, microcephaly, short palpebral fissures, mild learning disability, and esophageal/duodenal atresia. We studied four pedigrees, including a three-generation Dutch family with 11 affected members. Linkage analysis was initially aimed at chromosomal regions harboring candidate genes for this disorder. Twelve different genomic regions covering 15 candidate genes (~15% of the genome) were excluded from involvement in the ODED syndrome. A subsequent nondirective mapping approach revealed evidence for linkage between the syndrome and marker D2S390 (maximum LOD score 4.51 at recombination fraction 0). A submicroscopic deletion in a fourth family with ODED provided independent confirmation of this genetic localization and narrowed the critical region to 7.3 cM in the 2p23-p24 region. These results show that haploinsufficiency for a gene or genes in 2p23-p24 is associated with syndromic EA.
UR - https://www.scopus.com/pages/publications/0033928260
U2 - 10.1086/302779
DO - 10.1086/302779
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AN - SCOPUS:0033928260
SN - 0002-9297
VL - 66
SP - 436
EP - 444
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 2
ER -