De novo mutation and skewed X‐inactivation in girl with BCAP31‐related syndrome

Full genome analysis of a young girl with deafness, dystonia, central hypomyelination, refractory seizure, and fluctuating liver function impairment revealed a heterozygous, de novo variant in the BCAP31 gene on chromosome Xq28 (NM_001256447.2:c.92G>A), mutations of which caused the X‐linked rece...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Human mutation 2020-10, Vol.41 (10), p.1775-1782
Hauptverfasser:	Kao, Hsiao‐Jung, Chiang, Hung‐Lun, Chen, Hsiao‐Huei, Fan, Pi‐Chuan, Tu, Yi‐Fang, Chou, Yen‐Yin, Hwu, Wuh‐Liang, Lin, Chien‐Ling, Kwok, Pui‐Yan, Lee, Ni‐Chung
Format:	Artikel
Sprache:	eng
Schlagworte:	Alternative splicing BCAP31 DDCH Deafness Dystonia Exons - genetics Female female with X‐linked recessive disease Hereditary diseases Heterozygote Humans Insertion Leukocytes Membrane Proteins - genetics Mutation Polymerase chain reaction Presenilin 2 Reverse transcription Seizures splicing variants Syndrome X Chromosome Inactivation X chromosomes X‐inactivation
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!