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The proposed mode in inheritance by Bovee was autosomal dominant with incomplete penetrance.
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In this paper, we propose an index (h) that measures the degree of dominance and allows inferring the mode of inheritance in GAS in a continuous scale.
The availability of an extended pedigree can be very informative in mapping which variant(s) fits the mode of inheritance in the case(s) and not in the unaffected members of the family (e.g., for autosomal recessive mutations, confirming heterozygosity in the parents is a must).
In support of the low penetrance dominant mode of inheritance in MMD, the RNF213 founder mutation was present infrequently in controls (9 of 125).
We suggest the use of h as defined in (6) to infer the mode of inheritance in GAS, but an obvious question is: how does this index perform?
One way would be to reanalyze the initial datasets in a combined way as was done in mouse by assuming a common biallelic mode of inheritance in several mapping populations (Li et al. 2005a).
Nevertheless, these studies are largely hampered by the great variability in clinical presentation and the often vague mode of inheritance in many families.
The authors suggested that the occurrence of this condition in all three male siblings and its absence in the parents suggests an X-linked mode of inheritance in the family.
The SNPs that fulfil recessive mode of inheritance in the large data set are marked in bold face.
We identified a consanguineous family (AI-23) living locally, but originating from Pakistan, in which pitted hypomineralized AI segregates with an autosomal recessive mode of inheritance in the absence of any other co-segregating diseases (Fig. 1).
Our data indicate a non-Mendelian mode of inheritance in the general population and an apparent dominant mode of inheritance in certain large families.
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