In this study, we described a novel, hemizygous, missense mutation causing a conversion of the histidine residue to tyrosine in the protein sequence, at position 80th in exon 2 of AVPR2 in a 6-year-old proband with symptoms of CNDI and an X-linked recessive
Prenatal diagnosis of DMD is crucial because this disease has the most severe clinical symptoms among X-linked recessive
inherited muscular dystrophies, and no curative treatment is currently available .
Spondyloepiphyseal dysplasia tarda (SEDT) is an X-linked recessive
hereditary disease, which was first reported by Gedeon in 1999 .
This is an X-linked recessive
disorder that share many characteristics of WS like congenital deaf-mutism, heterochromic irides, piebald like skin patches and hair hypopigmentation.3 Presence of typical facial features along with involvement of both male and female members in same generation favors autosomal inheritance thus making diagnosis of Waardenburg syndrome more likely in our series.
Here we report an Omani family wherein otherwise healthy and asymptomatic parents had three male newborn babies and one maternal uncle having features of congenital bilateral VCP suggesting X-linked recessive
CGD is an X-linked recessive
or autosomal recessive genetic disease.
With reference to genotype on a single locus, there are twenty five different parent unions possible in nuclear pedigrees, six for each of autosomal dominant, autosomal recessive, X-linked dominant, X-linked recessive
(6+6+6+6 = 24) and one for Y-linked inheritance pattern.
AI may be inherited as an autosomal dominant, autosomal recessive, or an X-linked recessive
XLRS is an retinal dystrophy characterized by splitting of the neurosensory retinal layers and X-linked recessive
Although the majority of the cases are sporadic, cases showing autosomal dominant, recessive and X-linked recessive
inheritance have also been reported.
Agammaglobulinemia shows X-linked recessive
X-linked ichthyosis (XLI) is an X-linked recessive
disorder with a prevalence of approximately 1:4,000, demonstrating dry, scaly skin due to a deficiency of the enzyme steroid sulfatase .