A combined approach to the molecular analysis of cystinuria: from urinalysis to sequencing via genotyping.

Background: Cystinuria is an autosomal recessive disease that is manifested by kidney stones and is caused by mutations in two genes: SLC3AI on chromosome 2p and SLC7A9 on chromosome 19q. Urinary cystine levels in obligate carriers are often, but not always, helpful in identifying the causative gene.

Objectives: To characterize the clinical features and analyze the genetic basis of cystinuria in an inbred Moslem Arab Israeli family.

An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis.

Monilethrix is a structural defect of the hair shaft usually inherited in an autosomal dominant fashion and caused by mutations in the hHb1, hHb3, and hHb6 keratin genes. Autosomal recessive inheritance in this disease has been sporadically reported. We encountered 12 Jewish families from Iraq, Iran, and Morocco with microscopic findings of monilethrix, but with no evidence of vertical transmission.

Patients' information needs and decision-making processes: what can be learned from genetic counselees?

This field study investigated the information needs and decision-making strategies of 161 genetic counselees interviewed just prior to counseling. Patients were interested mostly in information about the outcomes and consequences of the alternative options at their disposal and about measures to defuse the risks. They wanted mainly information stated with certainty and were less interested in probability information.

The facilitating role of information provided in genetic counseling for counselees' decisions.

Purpose: To investigate genetic counselees' evaluations of the helpfulness of the information they receive in genetic counseling and of their difficulty in making decisions, and to determine correlates of these two outcomes.

Methods: A field study on 108 counselees seeking genetic counseling aimed at arriving at a reproduction-related decision. Prior to counseling, questionnaires measuring individual differences in factors expected to correlate with outcomes were administered.