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#300966 Table of Contents
- Title
- Phenotype-Gene Relationships
- Clinical Synopsis
- Phenotypic Series
- Text
- Description
- Clinical Features
- Cytogenetics
- Molecular Genetics
- Animal Model
- References
- Creation Date
- Edit History
▼ External Links
▼ Clinical Resources Clinical Trials EuroGentest GTR OrphaNet ICD+ # 300966INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33; MRXS33
Alternative titles; symbols
MENTAL RETARDATION, X-LINKED, SYNDROMIC 33
Phenotype-Gene Relationships
| Location | Phenotype | Phenotype MIM number | Inheritance | Phenotype mapping key | Gene/Locus | Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| Xq13.1 | Intellectual developmental disorder, X-linked syndromic 33 | 300966 | XLR | 3 | TAF1 | 313650 |
- Linear
- Radial
Intellectual developmental disorder, X-linked syndromic - PS309510 - 54 Entries
| Location | Phenotype | Inheritance | Phenotypemapping key | PhenotypeMIM number | Gene/Locus | Gene/LocusMIM number |
|---|---|---|---|---|---|---|
| Xp22.2 | Raynaud-Claes syndrome | XLD | 3 | 300114 | CLCN4 | 302910 |
| Xp22.2 | Basilicata-Akhtar syndrome | XLD | 3 | 301032 | MSL3 | 300609 |
| Xp22.2 | Intellectual developmental disorder, X-linked syndromic, Pilorge type | XL | 3 | 301076 | GLRA2 | 305990 |
| Xp22.2 | Pettigrew syndrome | XLR | 3 | 304340 | AP1S2 | 300629 |
| Xp22.12 | Intellectual developmental disorder, X-linked syndromic, Houge type | XL | 3 | 301008 | CNKSR2 | 300724 |
| Xp22.11 | Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type | XLR | 3 | 309583 | SMS | 300105 |
| Xp22.11 | MEHMO syndrome | XLR | 3 | 300148 | EIF2S3 | 300161 |
| Xp22.11 | Intellectual developmental disorder, X-linked syndromic 37 | XL | 3 | 301118 | ZFX | 314980 |
| Xp22.11-p21.3 | Van Esch-O'Driscoll syndrome | XLR | 3 | 301030 | POLA1 | 312040 |
| Xp21.3 | Partington syndrome | XLR | 3 | 309510 | ARX | 300382 |
| Xp21.1-p11.23 | Intellectual developmental disorder, X-linked syndromic 17 | XLR | 2 | 300858 | MRXS17 | 300858 |
| Xp11 | ?Intellectual developmental disorder, X-linked syndromic 12 | XL | 2 | 309545 | MRXS12 | 309545 |
| Xp11.4 | Intellectual developmental disorder, X-linked syndromic, Hedera type | XLR | 3 | 300423 | ATP6AP2 | 300556 |
| Xp11.4 | Intellectual developmental disorder, X-linked syndromic, Snijders Blok type | XLD, XLR | 3 | 300958 | DDX3X | 300160 |
| Xp11.4 | Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia | XL | 3 | 300749 | CASK | 300172 |
| Xp11.3-q22 | Intellectual developmental disorder, X-linked syndromic 7 | XL | 2 | 300218 | MRXS7 | 300218 |
| Xp11.2 | Intellectual developmental disorder, X-linked, syndromic, Stocco dos Santos type | XL | 2 | 300434 | SDSX | 300434 |
| Xp11.23 | Renpenning syndrome | XLR | 3 | 309500 | PQBP1 | 300463 |
| Xp11.22 | Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type | XLR | 3 | 300534 | KDM5C | 314690 |
| Xp11.22 | Intellectual developmental disorder, X-linked syndromic, Turner type | XL | 3 | 309590 | HUWE1 | 300697 |
| Xp11.22 | Intellectual developmental disorder, X-linked syndromic, Siderius type | XLR | 3 | 300263 | PHF8 | 300560 |
| Xp11.22 | Prieto syndrome | XLR | 3 | 309610 | WNK3 | 300358 |
| Xq11.2 | Wieacker-Wolff syndrome | XLR | 3 | 314580 | ZC4H2 | 300897 |
| Xq12-q21.31 | Intellectual developmental disorder, X-linked syndromic 9 | 2 | 300709 | MRXS9 | 300709 | |
| Xq12 | Wilson-Turner syndrome | XLR | 3 | 309585 | LAS1L | 300964 |
| Xq12 | Intellectual developmental disorder, X-linked syndromic, Billuart type | XLR | 3 | 300486 | OPHN1 | 300127 |
| Xq13-q21 | Martin-Probst syndrome | XLR | 2 | 300519 | MRXSMP | 300519 |
| Xq13.1 | ?Corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia | XLR | 3 | 300472 | IGBP1 | 300139 |
| Xq13.1 | Lujan-Fryns syndrome | XLR | 3 | 309520 | MED12 | 300188 |
| Xq13.1 | Intellectual developmental disorder, X-linked syndromic 34 | XL | 3 | 300967 | NONO | 300084 |
| Xq13.1 | Intellectual developmental disorder, X-linked syndromic 33 | XLR | 3 | 300966 | TAF1 | 313650 |
| Xq13.2 | Intellectual developmental disorder, X-linked syndromic, Abidi type | XL | 2 | 300262 | MRXSAB | 300262 |
| Xq13.2 | Tonne-Kalscheuer syndrome | XL | 3 | 300978 | RLIM | 300379 |
| Xq21.33-q23 | Intellectual developmental disorder, X-linked syndromic, Chudley-Schwartz type | XLR | 2 | 300861 | MRXSCS | 300861 |
| Xq22.1 | Intellectual developmental disorder, X-linked syndromic, Bain type | XLD | 3 | 300986 | HNRNPH2 | 300610 |
| Xq22.3 | Arts syndrome | XLR | 3 | 301835 | PRPS1 | 311850 |
| Xq24 | Intellectual developmental disorder, X-linked syndromic, Nascimento type | XLR | 3 | 300860 | UBE2A | 312180 |
| Xq24 | Intellectual developmental disorder, X-linked syndromic 14 | XLR | 3 | 300676 | UPF3B | 300298 |
| Xq24 | Intellectual developmental disorder, X-linked syndromic, Hackman-Di Donato type | XLR | 3 | 301039 | NKAP | 300766 |
| Xq24 | Intellectual developmental disorder, X-linked syndromic, Cabezas type | XLR | 3 | 300354 | CUL4B | 300304 |
| Xq25 | Intellectual developmental disorder, X-linked syndromic, Wu type | XLR | 3 | 300699 | GRIA3 | 305915 |
| Xq26.1 | Intellectual developmental disorder, X-linked syndromic, Raymond type | XL | 3 | 300799 | ZDHHC9 | 300646 |
| Xq26.2 | ?Paganini-Miozzo syndrome | XLR | 3 | 301025 | HS6ST2 | 300545 |
| Xq26.2 | Borjeson-Forssman-Lehmann syndrome | XLR | 3 | 301900 | PHF6 | 300414 |
| Xq26.3 | Intellectual developmental disorder, X-linked syndromic, Christianson type | XL | 3 | 300243 | SLC9A6 | 300231 |
| Xq26.3 | ?Intellectual developmental disorder, X-linked syndromic, Shashi type | XLR | 3 | 300238 | RBMX | 300199 |
| Xq26.3 | ?Intellectual developmental disorder, X-linked syndromic, Gustavson type | XLR | 3 | 309555 | RBMX | 300199 |
| Xq27.3 | Fragile X syndrome | XLD | 3 | 300624 | FMR1 | 309550 |
| Xq28 | Intellectual developmental disorder, X-linked 109 | XLR | 3 | 309548 | AFF2 | 300806 |
| Xq28 | Intellectual developmental disorder, X-linked syndromic 13 | XLR | 3 | 300055 | MECP2 | 300005 |
| Xq28 | Intellectual developmental disorder, X-linked syndromic, Lubs type | XLR | 3 | 300260 | MECP2 | 300005 |
| Xq28 | Intellectual developmental disorder, X-linked syndromic 35 | XLR | 3 | 300998 | RPL10 | 312173 |
| Xq28 | Intellectual developmental disorder, X-linked syndromic, Armfield type | XLR | 3 | 300261 | FAM50A | 300453 |
| Chr.X | Intellectual developmental disorder, X-linked, syndromic 32 | XLR | 2 | 300886 | MRXS32 | 300886 |
▼ TEXT
A number sign (#) is used with this entry because of evidence that X-linked syndromic intellectual developmental disorder-33 (MRXS33) is caused by mutation in the TAF1 gene (313650) on chromosome Xq13.
▼ Description
X-linked syndromic intellectual developmental disorder-33 (MRXS33) is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).
▼ Clinical Features
O'Rawe et al. (2015) reported 12 boys from 9 unrelated families with a complex X-linked neurodevelopmental syndrome. The boys had global developmental delay, intellectual disability with delayed speech and language, generalized hypotonia, and joint hypermobility. Most had intrauterine and/or postnatal growth retardation and oropharyngeal dysphagia. Common facial dysmorphic features included prominent supraorbital ridges, downslanting palpebral fissures, deep-set eyes, sagging cheeks, long philtrum, low-set and protruding ears, long face, high-arched palate, thin upper lip, pointed chin, and broad upturned nose with bulbous nasal tip. Other widely shared features included hearing impairment, microcephaly, and hypoplasia of the corpus callosum. Some additional neurologic features included spastic diplegia, dystonic movements, and tremors. Three patients from 1 family had seizures soon after birth, but other patients did not have seizures. Some had autistic behaviors. All patients also had a characteristic gluteal crease with a sacral caudal remnant, although spine imaging on 2 patients did not show any major underlying defect. Extensive clinical information was available in the supplemental material.
▼ Cytogenetics
O'Rawe et al. (2015) reported 2 unrelated boys with delayed psychomotor development, intellectual disability, dysmorphic facial features, and severe neurodegenerative phenotype associated with small duplications (0.423 Mb and 0.42 Mb, respectively) of chromosome Xq13 encompassing the TAF1 gene and other genes. One of the deletions was inherited from an unaffected mother who showed skewed X-inactivation; this patient also had a deletion at chromosome 17q21. The deletion in the other patient occurred de novo.
▼ Molecular Genetics
In 12 boys from 9 unrelated families with MRXS33, O'Rawe et al. (2015) identified 9 different hemizygous mutations in the TAF1 gene (see, e.g., 313650.0002-313650.0006). Most of the mutations occurred de novo, although 3 were inherited from an unaffected mother, 1 of whom showed skewed X-inactivation. Functional studies were not performed, but many of the variants affected highly conserved residues in domains critical for interaction with TAF7 (600573) and were predicted to disrupt this interaction. Gene expression studies in 1 family with a missense mutation (I1337T; 313650.0002) suggested that the phenotype is associated with downregulation of a set of genes regulated by E-box proteins. The mutations were found by several strategies, including whole-genome sequencing, exome sequencing, targeted gene-panel sequencing, and microarray-based strategies, and all were confirmed by Sanger sequencing.
▼ Animal Model
O'Rawe et al. (2015) found that knockdown of the taf1 gene in zebrafish resulted in a 10% reduction in the relative area of the optic tectum, suggesting a neuronal defect.
▼ REFERENCES
-
O'Rawe, J. A., Wu, Y., Dorfel, M. J., Rope, A. F., Au, P. Y. B., Parboosingh, J. S., Moon, S., Kousi, M., Kosma, K., Smith, C. S., Tzetis, M., Schuette, J. L., and 36 others. TAF1 variants are associated with dysmorphic features, intellectual disability, and neurological manifestations. Am. J. Hum. Genet. 97: 922-932, 2015. [PubMed: 26637982, images, related citations] [Full Text]
# 300966
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33; MRXS33
Alternative titles; symbols
MENTAL RETARDATION, X-LINKED, SYNDROMIC 33
SNOMEDCT: 1237420004; ORPHA: 480907; MONDO: 0010500;
Phenotype-Gene Relationships
| Location | Phenotype | Phenotype MIM number | Inheritance | Phenotype mapping key | Gene/Locus | Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| Xq13.1 | Intellectual developmental disorder, X-linked syndromic 33 | 300966 | X-linked recessive | 3 | TAF1 | 313650 |
TEXT
A number sign (#) is used with this entry because of evidence that X-linked syndromic intellectual developmental disorder-33 (MRXS33) is caused by mutation in the TAF1 gene (313650) on chromosome Xq13.
Description
X-linked syndromic intellectual developmental disorder-33 (MRXS33) is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).
Clinical Features
O'Rawe et al. (2015) reported 12 boys from 9 unrelated families with a complex X-linked neurodevelopmental syndrome. The boys had global developmental delay, intellectual disability with delayed speech and language, generalized hypotonia, and joint hypermobility. Most had intrauterine and/or postnatal growth retardation and oropharyngeal dysphagia. Common facial dysmorphic features included prominent supraorbital ridges, downslanting palpebral fissures, deep-set eyes, sagging cheeks, long philtrum, low-set and protruding ears, long face, high-arched palate, thin upper lip, pointed chin, and broad upturned nose with bulbous nasal tip. Other widely shared features included hearing impairment, microcephaly, and hypoplasia of the corpus callosum. Some additional neurologic features included spastic diplegia, dystonic movements, and tremors. Three patients from 1 family had seizures soon after birth, but other patients did not have seizures. Some had autistic behaviors. All patients also had a characteristic gluteal crease with a sacral caudal remnant, although spine imaging on 2 patients did not show any major underlying defect. Extensive clinical information was available in the supplemental material.
Cytogenetics
O'Rawe et al. (2015) reported 2 unrelated boys with delayed psychomotor development, intellectual disability, dysmorphic facial features, and severe neurodegenerative phenotype associated with small duplications (0.423 Mb and 0.42 Mb, respectively) of chromosome Xq13 encompassing the TAF1 gene and other genes. One of the deletions was inherited from an unaffected mother who showed skewed X-inactivation; this patient also had a deletion at chromosome 17q21. The deletion in the other patient occurred de novo.
Molecular Genetics
In 12 boys from 9 unrelated families with MRXS33, O'Rawe et al. (2015) identified 9 different hemizygous mutations in the TAF1 gene (see, e.g., 313650.0002-313650.0006). Most of the mutations occurred de novo, although 3 were inherited from an unaffected mother, 1 of whom showed skewed X-inactivation. Functional studies were not performed, but many of the variants affected highly conserved residues in domains critical for interaction with TAF7 (600573) and were predicted to disrupt this interaction. Gene expression studies in 1 family with a missense mutation (I1337T; 313650.0002) suggested that the phenotype is associated with downregulation of a set of genes regulated by E-box proteins. The mutations were found by several strategies, including whole-genome sequencing, exome sequencing, targeted gene-panel sequencing, and microarray-based strategies, and all were confirmed by Sanger sequencing.
Animal Model
O'Rawe et al. (2015) found that knockdown of the taf1 gene in zebrafish resulted in a 10% reduction in the relative area of the optic tectum, suggesting a neuronal defect.
REFERENCES
-
O'Rawe, J. A., Wu, Y., Dorfel, M. J., Rope, A. F., Au, P. Y. B., Parboosingh, J. S., Moon, S., Kousi, M., Kosma, K., Smith, C. S., Tzetis, M., Schuette, J. L., and 36 others. TAF1 variants are associated with dysmorphic features, intellectual disability, and neurological manifestations. Am. J. Hum. Genet. 97: 922-932, 2015. [PubMed: 26637982] [Full Text: https://doi.org/10.1016/j.ajhg.2015.11.005]
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