Id |
Subject |
Object |
Predicate |
Lexical cue |
T1 |
0-115 |
Sentence |
denotes |
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation. |
T2 |
116-387 |
Sentence |
denotes |
X-linked mental retardation has been traditionally divided into syndromic (S-XLMR) and non-syndromic forms (NS-XLMR), although the borderlines between these phenotypes begin to vanish and mutations in a single gene, for example PQBP1, can cause S-XLMR as well as NS-XLMR. |
T3 |
388-580 |
Sentence |
denotes |
Here, we report two maternal cousins with an apparently X-linked phenotype of mental retardation (MR), microphthalmia, choroid coloboma, microcephaly, renal hypoplasia, and spastic paraplegia. |
T4 |
581-755 |
Sentence |
denotes |
By multipoint linkage analysis with markers spanning the entire X-chromosome we mapped the disease locus to a 28-Mb interval between Xp11.4 and Xq12, including the BCOR gene. |
T5 |
756-937 |
Sentence |
denotes |
A missense mutation in BCOR was described in a family with Lenz microphthalmia syndrome, a phenotype showing substantial overlapping features with that described in the two cousins. |
T6 |
938-1003 |
Sentence |
denotes |
However, no mutation in the BCOR gene was found in both patients. |
T7 |
1004-1179 |
Sentence |
denotes |
Subsequent mutation analysis of PQBP1, located within the delineated linkage interval in Xp11.23, revealed a 2-bp deletion, c.461_462delAG, that cosegregated with the disease. |
T8 |
1180-1290 |
Sentence |
denotes |
Notably, the same mutation is associated with the Hamel cerebropalatocardiac syndrome, another form of S-XLMR. |
T9 |
1291-1418 |
Sentence |
denotes |
Haplotype analysis suggests a germline mosaicism of the 2-bp deletion in the maternal grandmother of both affected individuals. |
T10 |
1419-1659 |
Sentence |
denotes |
In summary, our findings demonstrate for the first time that mutations in PQBP1 are associated with an S-XLMR phenotype including microphthalmia, thereby further extending the clinical spectrum of phenotypes associated with PQBP1 mutations. |