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Chatkupt, S. et al.

Linkage analysis of a candidate locus (HLA) in autosomal dominant sacral defect with anterior meningocele.

Sacral defect with anterior meningocele (SDAM) is a type of caudal dysgenesis. It is present at birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic constipation, rectal fistula and abscess, or meningitis. The inheritance is autosomal dominant. HLA has been implicated in caudal dysgenesis because of analogy with disorders of the T-locus complex, a tail length determining gene in mice which is linked to the major histocompatibility complex, H-2. Members of a 5-generation family with sacral defect and anterior meningocele (SDAM) were typed with polymorphic markers (dinucleotide repeats D6S89, D6S105, D6S109, and TCTE1) linked to HLA. Two-point and multipoint analysis exclude the HLA region as the location for the SDAM gene in this family.[1]

References

Linkage analysis of a candidate locus (HLA) in autosomal dominant sacral defect with anterior meningocele. Chatkupt, S., Speer, M.C., Ding, Y., Thomas, M., Stenroos, E.S., Dermody, J.J., Koenigsberger, M.R., Ott, J., Johnson, W.G. Am. J. Med. Genet. (1994) [Pubmed]

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