Key Words: Autosomal recessive disease
, Gingival hyperplasia, Nodular swellings, Chondroid cells, Juvenile hyaline fibromatosis
Naxos disease is a rare autosomal recessive disease
that consists of an associated triad of woolly hair, thickened palms and soles (keratoderma), and heart involvement.
Xeroderma pigmentosum (XP) is a rare autosomal recessive disease
occurring in subjects with molecular defects in genes involved in nucleotide excision repair (NER) of ultraviolet-induced DNA lesions.
Burmese hypokalaemia is an autosomal recessive disease
, which means that carrier cats do not show signs of disease.
However, as we explained in our article, an autosomal recessive disease
, such as homocystinuria, is the most probable explanation.
Tay-Sachs disease is an autosomal recessive disease
caused by a deficiency of the enzyme hexosaminadase A.
It is an hereditary autosomal recessive disease
with a prevalence estimated in various studies to be between 1/57 000 and 1/256 000, and a male: female ratio of 1:3.
Cystic fibrosis (CF) is a common autosomal recessive disease
that inflicts Caucasian children.
Infantile malignant osteopetrosis (arOP; ARO; OMIM 259700) is an autosomal recessive disease
manifesting with anaemia, thrombocytopenia, hepatosplenomegaly, visual impairment due to optic atrophy and deafness.
This is also an autosomal recessive disease
with severe neurologic abnormalities, including hypotomia, mental retardation, and progressive psychomotor impairment until death.
However, use of DHPLC in screening for an autosomal recessive disease
such as hemochromatosis is limited by the fact that, although homo- and heteroduplexes are clearly resolved, it is not possible to distinguish between wild-type individuals and C282Y homozygotes unless each PCR product is mixed with DNA from a wild-type individual in a second step and run again (16,17), which considerably slows down the genotyping process.
SMA is an autosomal recessive disease
, which means that both parents of a baby with the illness will carry the gene responsible.
According to Diana Hu, MD, acting maternal child health coordinator for the Indian Health Service in Tuba City, AZ, about two of every 5,000 newborn Navajo babies have SCID, an autosomal recessive disease
that can be passed on only if both parents carry the gene.
For a child to be born with an autosomal recessive disease
, of which Batten disease is one of hundreds, both parents must carry the gene mutation.
Dr Fida explained that genetic profiling is a good solution if both parents have an autosomal recessive disease
such as sickle cell or beta thalassemia, which could lead to up to 25% of an affected foetus.