14
Nov
Neuropsychiatric phenotypes and ASD features in 3q29 deletion syndrome
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Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome: results from the 3q29 registry The phenotype of 3q29 deletion syndrome is characterized mainly by neurodevelopmental and psychiatric features. Usually this syndrome is caused by a de novo deletion, typically 1.6 Mb, on chromosome 3. Although, it... Read More
18
Jul
Integrated analysis of the critical region 5p15.3–p15.2 associated with cri-du-chat syndrome
Integrated analysis of the critical region 5p15.3–p15.2 associated with cri-du-chat syndrome Cri-du-chat syndrome (CdCs) is caused by a deletion of the distal part of the short arm of chromosome 5. The clinical characteristics of CdCs are well known and include a cat-like cry, psychomotor delay, intellectual disability, microcephaly and dysmorphic... Read More
20
Jun
Phelan-McDermid Syndrome Patient Powered Research Network
This article discusses Phelan-McDermid Syndrome and the Patient Powered Research Network. Phelan-McDermid Syndrome (PMS) is a rare neurodevelopmental disorder, with only about 1,400 cases reported. It is caused either by a 22q13 deletion – a region within the long arm of chromosome 22 – or a mutation within the SHANK3... Read More
28
Dec
BPTF gene mutation 17q24.2 deletion – microcephaly, developmental and speech delay
Chromatin remodeling is essential for DNA accessibility and gene regulation, and its disruption leads to a variety of disorders. The protein complex NURF (nucleosome remodeling factor) involved in chromatin remodeling is important in regulating fetal development. NURF contains the proteins SNF2L, pRBAP46/48, and BPTF. BPTF, in particular, is expressed throughout... Read More
02
Nov
Chromosome 1q42 deletion and renal cell carcinoma
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a cancer syndrome that is caused by mutations in the FH gene in 90% of cases. In the other 10% of cases, the genetic cause is unknown. Here, the authors examined 28 patients from 13 families where no point mutation in FH... Read More
