Cerebral Palsy

Gene: TAF1

Green List (high evidence)

Additional male with hemizygous stopgain variant in large-scale exome sequencing study of CP (PMID: 38693247). Detailed clinical information not supplied.

Created: 26 Jun 2024, 2:36 a.m. | Last Modified: 26 Jun 2024, 2:36 a.m.

Panel Version: 1.315

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Intellectual developmental disorder, X-linked syndromic 33, OMIM #300966; Dystonia-Parkinsonism, X-linked, OMIM #314250

Publications

• PMID: 38693247

Green List (high evidence)

O'Rawe et al. (2015) reported 12 boys from 9 unrelated families with X-linked global developmental delay, intellectual disability, dysmorphism, generalized hypotonia, microcephaly and variable neurologic features (hypoplastic CC, spastic diplegia, dystonic movements, tremors). They identified 9 different hemizygous mutations in TAF1 gene (most de novo, 3 maternally inherited). No functional studies. The mutations were found by WGS, WES, targeted panel and microarray, and all confirmed by Sanger sequencing.

Moreno-De-Luca et al. (2021) reported 2 patients with CP and de novo LP variant.

Note: X-linked dystonia-parkinsonism (XDP) is caused by an SVA (short interspersed nuclear element, variable number of tandem repeats, and Alu composite) retrotransposon insertion in intron 32 of TAF1, which encodes the largest component of the TFIID complex, and resulted in significantly decreased expression levels of TAF1 and the dopamine receptor D2 gene (DRD2) in the caudate nucleus.
Sources: Literature

Created: 30 Sep 2021, 10:28 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Intellectual developmental disorder, X-linked syndromic 33, OMIM #300966; Dystonia-Parkinsonism, X-linked, OMIM #314250

Publications

• PMID: 26637982, 33528536, 17273961