A clinical and genetic study of Hunter's syndrome. 1. Heterogeneity.

A Comprehensive Genetic and Clinical Evaluation of Waardenburg Syndrome Type II in a Set of Iranian Patients

Waardenburg syndrome (WS) is a neurocristopathy with an autosomal dominant mode of inheritance, and considerable clinical and genetic heterogeneity. WS type II is the most common type of WS in many populations presenting with sensorineural hearing impairment, heterochromia iridis, hypoplastic blue eye, and pigmentary abnormalities of the hair and skin. To date, mutations of MITF, SOX10, and SNA...

A clinical and genetic study of Hunter's syndrome. 2. Differences between the mild and severe forms.

[Life experiences of mothers in parenting children with Hunter's syndrome].

PURPOSE The purpose of this study was to explore the experiences of Korean mothers in parenting children with Hunter's syndrome, an X linked recessive genetically inherited disease usually affecting boys. METHODS Data were collected from 14 mothers having children with Hunter's syndrome, through two focus group interviews and individual in-depth interviews. Qualitative data from the field not...

MOLECULAR STUDY OF PKD1 & PKD2 GENES BY LINKAGE ANALYSIS AND DETERMINING THE GENOTYPE/PHENOTYPE CORRELATIONS IN SEVERAL IRANIAN FAMILIES WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

 ABSTRACT Background: Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder with genetic heterogeneity. Up to three loci are involved in this disease, PKDI on chromosome 16p13.3, PKD2 on 4q21, and a third locus of unknown location. Methods: Here we report the first molecular genetic study of ADPKD and the existence oflocus heterogeneity for ADPKD in the Iranian populatio...

Segregation and sporadic cases in families with Hunter's syndrome.

Segregation analysis on five samples of families with Hunter's syndrome (158 cases overall) shows that the mutant allele segregates in agreement with Mendelian expectations for an X linked recessive disease, but the proportion of sporadic cases is significantly lower than expected under mutation-selection equilibrium. Heterogeneity among the samples is apparent, but it is caused entirely by a s...