OMIM ID:
Myopia 25, Autosomal Dominant, Nonsyndromic
Alternate Names
Defective Genes
Clinical Characteristics
Ocular Features
Myopia in the range of -6.00 to -31.01 diopters with onset before 10 years of age are the only ocular signs reported.
Systemic Features
No systemic signs have been reported.
Genetics
Inheritance
This nonsyndromic autosomal dominant condition results from heterozygous mutations in P4HA2 (5q31.1). A three generation Chinese family has been reported. A variety of other mutations in the same gene have been identified in sporadic cases.
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission