ClinVar

In a 3-month-old girl with malignant infantile osteopetrosis (259720), born of second-cousin Kuwaiti parents, Ramirez et al. (2004) identified a homozygous 2-bp deletion, 415delAG, in exon 2 of the OSTM1 gene. The parents were heterozygous for the mutation, which was not found in 100 German control chromosomes.

In a Kuwaiti boy previously described by Abinun et al. (1999) and an unrelated Kuwaiti girl, both with severe osteopetrosis, Pangrazio et al. (2006) identified homozygosity for the 415delAG mutation. Both sets of parents were consanguineous, and all were heterozygous for the mutation. Haplotype analysis indicated that the 3 Kuwaiti families found to carry this mutation to date are not related, although the authors noted that it is possible that they share a common ancestor.