Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0014848 (
achalasia
)
2,804
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We here report a family from Libya with three siblings suffering from early onset
achalasia
born to healthy parents. We analyzed roughly 5000 disease-associated genes by a next-generation sequencing (NGS) approach. In the analyzed sibling we identified two heterozygous variants in
CRLF1
(
cytokine receptor-like factor 1
). Mutations in
CRLF1
have been associated with autosomal recessive Crisponi or
cold-induced sweating syndrome
type 1 (CS/
CISS1
), which among other symptoms also manifests with early onset feeding difficulties. Segregation analysis revealed compound heterozygosity for all affected siblings, while the unaffected mother carried the c.713dupC (p.Pro239Alafs*91) and the unaffected father carried the c.178T>A (p.Cys60Ser) variant. The c.713dupC variant has already been reported in affected CS/
CISS1
patients, the pathogenicity of the c.178T>A variant was unclear. As reported previously for pathogenic
CRLF1
variants,
cytokine receptor-like factor 1
protein secretion from cells transfected with the c.178T>A variant was severely impaired. From these results we conclude that one should consider a
CRLF1
-related disorder in early onset
achalasia
even if other CS/
CISS1
related symptoms are missing.
...
PMID:Mutations in CRLF1 cause familial achalasia. 2797 5
