XFE progeriod syndrome

Question 1

What are the symptoms of XFE progeriod syndrome?

Answer 1

Absence of subcutaneous fat
Ascites–> accumulation of fluid in abdomen
Cachexia–> wasting syndrome
Convex Nasal ridge–> beaked nose

Question 2

What gene is involved in XFE progeriod syndrome?

Answer 2

XPF on Chromosome 16

ERCC4 gene

Question 3

What is the inheritance pattern for XFE progeriod syndrome?

Answer 3

Autosomal recessive

Question 4

What is the phenotype of the heterozygous in XFE progeriod syndrome?

Answer 4

They don’t show severe signs of the disease.

It can be a homozygous or compound heterozygous mutation