作者: L�cia Y. Brown , Susan E. Hodge , William G. Johnson , Sandra G. Guy , Jeffrey S. Nye
DOI: 10.1002/AJMG.10221
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摘要: Neural tube defects (NTDs) and brain malformations represent a common finding in chromosome 13q deletion patients. Hemizygosity for ZIC2, which is located the 13q32 critical region, results holoprosencephaly (HPE) humans, diminished expression of ZIC2 HPE as well lumbosacral NTDs mice. Taken together, these observations led us to hypothesize that mutations may be cause isolated NTD. To test this, we screened 192 NTD patients ZIC2. While did not find patients, some evidence possible association between histidine tract polymorphism NTDs. Our sample was too small reach definitive conclusions, but sufficiently intriguing encourage further research. If this confirmed, subtle alterations activity confer risk