Icelandic
Albanian
Arabic
Armenian
Azerbaijani
Belarusian
Bengali
Bosnian
Catalan
Czech
Danish
Deutsch
Dutch
English
Estonian
Finnish
Français
Greek
Haitian Creole
Hebrew
Hindi
Hungarian
Icelandic
Indonesian
Irish
Italian
Japanese
Korean
Latvian
Lithuanian
Macedonian
Mongolian
Norwegian
Persian
Polish
Portuguese
Romanian
Russian
Serbian
Slovak
Slovenian
Spanish
Swahili
Swedish
Turkish
Ukrainian
Vietnamese
Български
中文(简体)
中文(繁體)
Genetics and Molecular Research 2016-Sep

Novel mutations in the FUCA1 gene that cause fucosidosis.

Aðeins skráðir notendur geta þýtt greinar
Skráðu þig / skráðu þig
Krækjan er vistuð á klemmuspjaldið
W Panmontha
P Amarinthnukrowh
P Damrongphol
T Desudchit
K Suphapeetiporn
V Shotelersuk

Lykilorð

Útdráttur

Fucosidosis is a rare lysosomal storage disorder inherited in an autosomal recessive manner. Its estimated frequency is below 1 in 200,000 live births. Its clinical phenotypes include progressive neurological and mental deterioration, coarse facial features, growth retardation, visceromegaly, angiokeratomas, and seizures. The disease is caused by mutations in the FUCA1 gene that lead to deficiency of a-L-fucosidase. Here, we describe the clinical and molecular features of a Thai boy with fucosidosis. Whole exome sequencing and array-based comparative genomic hybridization analysis revealed that the patient was compound heterozygous for a single base-pair deletion (c.670delC; p.P224LfsX2) inherited from his father, and a 3281-base-pair deletion covering exon 3 inherited from his mother. Neither mutation has been reported before so the FUCA1 mutational spectrum is herein expanded.

Skráðu þig á
facebook síðu okkar

Heillasta gagnagrunnur lækningajurtanna sem studdur er af vísindum

  • Virkar á 55 tungumálum
  • Jurtalækningar studdir af vísindum
  • Jurtaviðurkenning eftir ímynd
  • Gagnvirkt GPS kort - merktu jurtir á staðsetningu (kemur fljótlega)
  • Lestu vísindarit sem tengjast leit þinni
  • Leitaðu að lækningajurtum eftir áhrifum þeirra
  • Skipuleggðu áhugamál þitt og vertu vakandi með fréttarannsóknum, klínískum rannsóknum og einkaleyfum

Sláðu inn einkenni eða sjúkdóm og lestu um jurtir sem gætu hjálpað, sláðu jurt og sjáðu sjúkdóma og einkenni sem hún er notuð við.
* Allar upplýsingar eru byggðar á birtum vísindarannsóknum

Google Play badgeApp Store badge