Because IL2RG is located on the X-chromosome, XSCID is inherited in an X-linked recessive
pattern, resulting in almost all patients being male.
X-linked ichthyosis is an X-linked recessive
trait, in which males are affected and mothers are carriers.
In the study of genetic disorders, four general patterns of inheritance are distinguishable by pedigree analysis: autosomal recessive, autosomal dominant, X-linked recessive
, and X-linked dominant.
The gene that codes for colour-blindness is located on the X chromosome and is recessive (X-linked recessive
However, loss-of-function mutations in AVPR2 lead to X-linked recessive
NDI and this accounts for 90% of cases with CNDI.
Chronic granulomatous disease (CGD) is a rare genetic condition where nicotinamide adenine dineucleotide phosphate (NADPH) oxidase complex fails to generate reactive oxygen species (ROS) in the activated neutrophils, monocytes and macrophages.1 CGD is a single gene defect; either X-linked recessive
(XR - CGD) in 60% of the cases or autosomal recessive (AR - CGD) in 40% of the cases.
It is an X-linked recessive
trait and in this trait the blood fails to cloth properly after an injury.
This phenomenon is termed as HPRT1 deficiency (OMIM: 308000), an X-linked recessive
inherited disease. A complete deficiency of HPRT1 (Lesch-Nyhan syndrome) is accompanied by hyperuricemia, severe motor disability, and self-injurious behavior.
Most patients (65%) have gp91phox mutation with X-linked recessive
inheritance in Western countries, while in the region with high rate of consanguinity, such as Turkey, Iran and Israel, autosomal recessive (AR) form of disease is prevalent (2).
MPS II, also known as Hunter syndrome, is a rare X-linked recessive
genetic disease caused by deficiency of I2S, an enzyme required for the breakdown of polysaccharides in the lysosomes.
Duchenne muscular dystrophy (DMD) is an X-linked recessive
disease with an incidence of 1 in 3500 live male births [1, 2].
The patients are all male, which is in accordance with the genetic characteristics of X-linked recessive
inheritance, and the imaging features are consistent with the typical characteristic features of SEDT.