Parietal Foramina 3

Watchlist

(log in to enable)

Retrieved

2019-09-22

Source

Omim

Trials

—

Genes

ALX4, MSX2, EXT2, ALX3, TWIST1, CREBBP, EP300, FGFR2, PHF21A, RPS19, ALX1, SCN4A, CACNA1S, TNF, UGT8, USP14, PRDM5, IL6, CAT, QTRT1

Drugs

—

Interested in hearing about new therapies?

Description

Parietal foramina-3 is a nonsyndromic developmental defect characterized by symmetrical oval holes in the parietal bone (Chen et al., 2003).

For a discussion of genetic heterogeneity of parietal foramina, see 168500.

Clinical Features

Chen et al. (2003) reported a large Chinese pedigree in which 15 individuals spanning 4 generations had typical features of nonsyndromic PFM.

Inheritance

The transmission pattern of parietal foramina in the family described by Chen et al. (2003) was consistent with autosomal dominant inheritance.

Mapping

By genomewide scanning in a Chinese family segregating PFM, Chen et al. (2003) identified a putative locus, termed PFM3, on chromosome 4q21-q23 (maximum 2-point lod score of 3.87 at marker D4S2961; maximum multipoint lod score of 6.17 between D4S2986 and D4S421). Haplotype analysis refined PFM3 to a 20-cM interval between D4S2964 and D4S2961. The authors excluded mutations in the BMPR1B (603248), SPP1 (166490), and IBSP (147563) genes.