TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12550
Abstract: TRIT1 defect is a rare, autosomal‐recessive disorder of transcription, initially described as a condition with developmental delay, myoclonic seizures, and abnormal mitochondrial function. Currently, only 13 patients have been reported. We reviewed the genetic, clinical,… read more here.
Keywords: delay strabismus; epilepsy speech; myoclonic epilepsy; speech delay ... See more keywords
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
Sign Up to like & getrecommendations! Published in 2017 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2017.08.014
Abstract: Bromodomain PHD finger transcription factor (BPTF) is the largest subunit of nucleosome remodeling factor (NURF), a member of the ISWI chromatin-remodeling complex. However, the clinical consequences of disruption of this complex remain largely uncharacterized. BPTF… read more here.
Keywords: postnatal microcephaly; microcephaly dysmorphic; bptf; delay ... See more keywords
Relationships between DMD mutations and neurodevelopment in dystrophinopathy
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DOI: 10.1212/wnl.0000000000008363
Abstract: Objective We performed a prospective, cross-sectional analysis of neurodevelopmental concerns and psychosocial adjustment in relation to DMD mutations in young steroid-naive boys with dystrophinopathy. Methods We evaluated 196 steroid-naive boys with dystrophinopathy who were enrolled… read more here.
Keywords: dmd mutations; neurodevelopmental concerns; psychosocial adjustment; speech delay ... See more keywords