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Autosomal dominant holoprosencephaly is a rare but well documented entity and it can be the result of mutations in the Sonic Hedgehog gene (SHH). The transmitting parent may be normal or have a single maxillary central incisor.  We describe a skewed sex ratio among the transmitting parents with SHH mutations, with more mothers than fathers having the mutation (p=0.002). The mechanism underlying this skewed sex ratio is not clear; the SHHmutations do not involve triplet repeats, imprinting is plausible but untested, and there is no evidence that the risk of holoprosencephaly is greater among males carrying such a mutation (p=0.15). We considered the possibility that males with such a mutation are at greater risk of other malformations outside the central nervous system, which could reduce their reproductive fitness.  To avoid ascertainment bias in identifying children with various malformations in kindreds with familial holoprosencephaly, we reviewed the reports of people with single maxillary central incisor and no other congenital malformations. Of the 16 cases identified, 13 were female (p=0.0085).  We suggest that boys with mutations associated with autosomal dominant holoprosencephaly may be at greater risk of major malformations outside the central nervous system than girls.

Skewed sex ratios in familial holoprosencephaly and in people with isolated single maxillary central incisor