Table 1.
Expression and Methylation Status of Lymphoblast GNAS1Gene[Note]
|
Expression ata |
|||||
| Group and Subject(Disorder) | NESP55 | XLαs | Exon 1A | Exon 1 | Methylationat Exon 1Ab |
| Family R: | |||||
| II.2 (Carrier) | NP | NP | NP | NP | +/− B,S |
| II.4 (PHP1B) | NP | NP | Biallelic | NP | −/− B,S |
| III.1 (PHP1B) | NP | NP | NP | NP | −/−S |
| III.3 (PHP1B) | NP | NP | Biallelic | NP | −/− S |
| III.4 PHP1B) | NP | NP | Biallelic | NP | −/− S |
| II.1 (Unaffected) | NP | NP | NP | NP | +/− B,S |
| II.6 (Unaffected) | NP | NP | Uniallelic | NP | +/− S |
| III.5 (Unaffected) | ND | ND | Uniallelic | ND | +/− B |
| III.6 (Unaffected) | ND | ND | Uniallelic | Biallelic | ND |
| III.7 (Unaffected) | NP | NP | NP | NP | +/− B |
| III.8 (Unaffected) | ND | ND | ND | ND | +/− B |
| III.9 (Unaffected) | ND | ND | ND | ND | +/− B |
| IV.1 (Unaffected) | ND | ND | Uniallelic | ND | +/− B |
| IV.2 (Unaffected) | ND | ND | Uniallelic | ND | +/− B |
| Familial PHP1b (N = 17) | Uniallelic (4/4) | Uniallelic (4/4) | Biallelic (5/5) | Biallelic (4/4) | −/− (14/14) |
| Sporadic PHP1b (N = 6) | Uniallelic (2/2) | Biallelic (1/2) | Biallelic (4/4) | Biallelic (3/3) | −/− (6/6) |
| PHP1b carrier (N = 2) | Uniallelic (1/1) | Uniallelic (1/1) | Uniallelic (1/1) | Biallelic (1/1) | +/− (2/2) |
| PHP1a (N = 9) | ND | ND | Uniallelic (5/5) | Biallelic (1/1) | +/− (7/7) |
| Unaffected (N = 20) | Uniallelic (1/1) | Uniallelic (3/3) | Uniallelic (11/11) | Biallelic (5/5) | +/− (12/12) |
Note.— Numbers in parentheses are no. of subjects with expression or no. of subjects with methylation/total no. of subjects.
a
Biallelic = expressed from maternal and paternal allele; ND = not done; NP = noninformative for exon 5 polymorphism; uniallelic = expressed from only one parental allele.
b
B = bisulfite sequencing; S = Southern blot analysis; −/−= absence of methylation demonstrated by sequencing and/or Southern analysis; +/ = heterozygous methylation.