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. Since no mutations were found in these three hair keratin genes, we examined nine chromosomal regions containing gene clusters encoding skin and hair genes. On chromosome 18q, a common haplotype in the homozygous state was found among all seven Iraqi patients, but not in 20 controls (P<0.0001). Sequencing of the main candidate gene from this region revealed four different mutations in desmoglein 4 (DSG4). Mutations in DSG4 have been previously reported in localized autosomal recessive hypotrichosis, a disorder that shares the clinical features of monilethrix but lacks the characteristic microscopic appearance of the hair shaft. Our findings have important implications for genetic counseling to monilethrix patients and families, and suggest that DSG4-associated hair disorders may be more common than previously thought.
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. There was no difference in the search for information between the alternative eventually chosen and the one not chosen. There was a difference, however, among types of decisions and the interest in the various categories of information. These findings were interpreted within the theoretical model of decision making in natural risky situations (O. Huber, 1997). Practical implications for shared medical decision making are presented.
Cytogenetic analysis was carried out in unrelated schizophrenic patients, unrelated controls and patients and family members in multiplex families. The size distribution of chromosome 1 heterochromatic region (1qH, C-band variants) among 21 unrelated schizophrenic patients was different from that found in a group of 46 controls. The patient group had 1qH variants of smaller size than the control group (P < 0.01). Incubation of phytohemagglutinin-treated blood lymphocytes with 5-azacytidine (which causes decondensation and extension of the heterochromatin) led to a lesser degree of heterochromatin decondensation in a group of patients than in the controls (7 schizophrenic, 9 controls, P < 0.01). The distribution of phenotypes of Duffy blood group system [whose locus is linked to the 1qH region (Donahue et al.: Proc Natl Acad Sci USA 61:949-955, 1968; Rouleau et al.: Genomics 7:313-318, 1990)] among 28 schizophrenic patients was also different from that in the general population. Cosegregation of schizophrenia with a 1qH (C-band) variant and Duffy blood group allele was observed in one of six multiplex families. The overall results suggest that alterations within the Duffy/1qH region are involved in schizophrenia in some cases. This region contains the locus of D5 dopamine receptor pseudogene 2 (1q21.1), which is transcribed in normal lymphocytes (Takahashi et al.: FEBS Lett 314:23-25, 1992).
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. The objective controllability of the information conveyed in counseling was evaluated by counselors. The outcomes -decision difficulty and information helpfulness -were evaluated one month after counseling in a telephone interview. Results: Information about consequences of options and about possible controlling actions were evaluated as most helpful; whether other information was helpful depended on the type of decision to be made. Decision difficulty was unrelated to counselees' evaluations of the helpfulness of the information. Decision difficulty was also unrelated to individual difference variables, but was related to the objective controllability of the information. Conclusion: These findings may help develop guidelines for identifying clients prior to counseling for whom making reproduction-related decisions will be difficult, and for tailoring information that will help such clients reach a decision. Genet Med 2006:8(2):116-124. Key Words: genetic counseling, decision-making, informationEarly definitions of genetic counseling saw the genetic counselor as either "information giver" 1 or "facilitator of counselees' decision-making," 2 and these views have influenced genetic counseling definitions to this day. 3,4 They dovetail with counselees' expectations from genetic counseling to receive information, half of them expecting to get advice, and about a third expecting to get help in decision-making. 5 Accordingly, educational and decisional outcomes have been used as the main criteria for assessing success of genetic counseling over the years. 6 -8 Criticism of the limitations of these outcomes 3,4,9 gave rise to modern approaches to genetic counseling that emphasize process factors and represent a wider range of outcomes. 10 A modern definition of genetic counseling sees it as a "dynamic psychoeducational process centered on genetic information", 11 in which "the goal is to facilitate clients' ability to use genetic counseling in a personally meaningful way that minimizes psychological distress and increases personal control." Consequently, the present research focused on the helpfulness of the information received in counseling for facilitating counselees' decisions rather than on the commonly studied amount and accuracy of the information gained. We suggest that separating information from decision as outcomes of counseling is artificial, since information is provided in genetic counseling not as an end in itself, but as a means of facilitating a personally satisfactory decision. Specifically, we explored the relationships between...
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