Alström syndrome (AS) is a rare autosomal recessive disorder, characterized by retinal degeneration, progressive hearing impairment, truncal obesity and non-insulin dependent diabetes mellitus. A 6-year-old girl was admitted with aphasia, deafness, strabismus, abdominal distention, and weakness on the right body side. The physical and laboratory examination revealed psychomotor retardation, rig...

Pendred syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH) in the United States of America.Pendred syndrome is characterized by the association of congenital bilateral neurosensory deafness, thyroid goiter, cochleovestibular malformation and potential vestibular dysfunction. Incidence ranges between 1/100,000 and 10/100,000 bir...

We present five patients with the clinical diagnosis of Fountain's syndrome, an autosomal recessive entity with mental retardation, deafness, skeletal abnormalities and coarse face with full lips as cardinal features and review all cases reported so far. We report two new isolated cases, and present follow-up data on three previously reported patients. The clinical features of all these patient...

Founder mutations, particularly 35delG in the GJB2 gene, have to a large extent contributed to the high frequency of autosomal recessive nonsyndromic hearing loss (ARNSHL). Mutations in transmembrane channel-like gene 1 (TMC1) cause ARNSHL. The p.R34X mutation is the most frequent known mutation in the TMC1 gene. To study the origin of this mutation and determine whether it arose in a common an...

K(+) outward currents in the outer hair cells (OHCs) of circling mice (homozygous (cir/cir) mice), an animal model for human deafness (DFNB6 type), were investigated using a whole cell patch clamp technique. Littermate heterozygous (+/cir) mice of the same age (postnatal day (P) 0 -P6) were used as controls. Similar slow rising K(+) currents were observed in both genotypes, but their biophysica...

Backgrounds: Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder, distinguished by hypotrichosis, hypohidrosis, and hypodontia. HDE can be inherited in X-linked recessive manner as a result of mutations in the ectodysplasin A (EDA) gene as well as autosomal dominant and autosomal recessive manners both of them caused by mutations in EDA receptor (EDAR) and EDAR-associated death d...

while hearing loss has been considered to be a very heterogeneous disorder, mutations in gap junction beta 2 (gjb2) gene encoding connexin 26 (cx26) protein are the major cause of autosomal recessive and sporadic non-syndromic deafness in many populations. in this study, we have investigated the prevalence of the gjb2 gene mutations using nested pcr pre screening strategy and direct sequencing ...

Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism resulting from deficiency hydroxylase (PAH).