Table 1. .
Overview of FRA12A Expression of 41 Individuals from 16 Published Families
| Family and Subject |
Sex | MR/Delaya | Percentage of Cells with FRA12A Expression |
Phenotype and Remarks | Reference (Year) |
| 1: | Giraud et al.20 (1976) | ||||
| 1 | F | N | Mother of baby with lethal arthrogryposis, baby had no evidence of FRA12A (subject 9) | ||
| 2: | Giraud et al.20 (1976) | ||||
| 2 | M | Y | Male with MR and multiple congenital abnormalities (not detailed) (subject 10) | ||
| 3: | Stetten et al.21 (1988) | ||||
| 3 | F | N | Woman, aged 38 years, with two miscarriages | ||
| 4: | Smeets et al.16 (1985) | ||||
| 4 | M | Y | 40 | Male with MR (40% of cells), unaffected sister (22% of cells), and unaffected mother (26% cells) | |
| 5 | F | N | 22 | Unaffected sister of subject 4 | |
| 6 | F | N | 26 | Unaffected mother of subject 4 | |
| 5: | Moric-Petrovic and Laca22 (1984) | ||||
| 7 | M | Y | Male with MR, hypotonia, cryptorchidism, and micropenis; neither parent had fragile site | ||
| 6: | Donti et al.23 (1979) | ||||
| 8 | F | Y | 30 | Female with MR, hypotonia, facial dysmorphisms, arachnodactyly, intracranial calcification; neither parent had fragile site | |
| 7: | Mules et al.17 (1983) | ||||
| 9 | M | N | Incidental finding in the father of child with ring chromosome 13 | ||
| 10 | F | N | 8 | Mother of subject 9; low-folate culture failed, 4 of 63 FRA12A seen on standard-culture cultured fibroblasts 2 of 63 in subject 9 | |
| 8: | Sutherland and Hecht24 (1985) | ||||
| 11 | M | N | 13 | Phenotypically unaffected male neonate | |
| 12 | F | N | 14 | Phenotypically unaffected mother of subject 11 | |
| 13 | F | N | 24 | Phenotypically unaffected maternal grandmother of subject 11 | |
| 14 | M | N | 12 | Phenotypically unaffected maternal great-grandfather of subject 11 | |
| 9: | Sutherland and Hinton25 (1981) | ||||
| 15 | M | N | 16 | Found in family with autosomal dominant epidermylosis bullosa simplex (EBS), unaffected | |
| 16 | M | N | 16 | Brother of subject 15; unaffected with EBS | |
| 17 | F | N | 16 | Sister of subject 15; affected with EBS | |
| 18 | F | N | 28 | Mother of subject 15; affected with EBS | |
| 19 | F | N | 12 | Maternal aunt of subject 15 | |
| 20 | F | N | 18 | Maternal first cousin of subject 15 | |
| 21 | M | N | 30 | Maternal first cousin of subject 15 | |
| 22 | F | N | 14 | Maternal aunt of subject 15; unaffected with EBS | |
| 23 | F | N | 11 | Maternal first cousin of subject 15 | |
| 24 | F | N | 12 | Maternal grandmother of subject 15; affected with EBS | |
| 25 | M | N | 8 | Maternal great-uncle of subject 15 | |
| 10: | Kumar et al.26 (1986) | ||||
| 26 | F | N | 30 | Probably incidental finding in a woman with craniofrontonasal dysplasia | |
| 27 | F | N | 27 | Unaffected sister of subject 26 | |
| 28 | F | N | 20 | Mother of subject 26; also affected with craniofrontonasal dysplasia | |
| 11: | Webb et al.27 (1987) | ||||
| 29 | F | Y | Female with mild nondysmorphic MR; parents not available | ||
| 12: | Guichaoua et al.28 (1982) | ||||
| 30 | F | N | Mother of an infant with multiple malformations | ||
| 13: | Guichaoua et al.28 (1982) | ||||
| 31 | M | Y | Male, aged 7 years, with dysmorphic features | ||
| 14: | Giardino29 (1990) | ||||
| 32 | M | N | 9 | Male whose wife had multiple miscarriages | |
| 33 | F | N | 14 | Unaffected daughter of subject 32 | |
| 34 | F | N | 16 | Unaffected daughter of subject 32 | |
| 15: | Kahkonen30 (1989) | ||||
| 35 | F | N | 25 | Unaffected female; coincidental finding on investigation of familial t(X;5) | |
| 36 | F | N | 12 | Unaffected mother of subject 35 | |
| 37 | F | N | 18 | Unaffected maternal aunt of subject 35 | |
| 38 | M | N | 10 | Unaffected maternal uncle of subject 35 | |
| 16: | Berg et al.15 (2000) | ||||
| 39 | F | Y | 40 | Girl, aged 11 years, with MR, pulmonary stenosis, and bullus ichthyosiform erythroderma | |
| 40 | F | N | 20 | Mother of subject 39; unaffected | |
| 41 | F | N | 2 | Maternal grandmother of subject 39; unaffected |
a
Mental retardation (MR) or developmental delay.