Genetic service for couples plays an increasingly important role in diagnosis and risk management. This study investigated the status of consanguinity and the medical genetic history (effectiveness and coverage of medical genetic services) in couples residing in a city in southern Iran. We questioned couples who were referred to Behbahan Marital Counseling Center, Behbahan, Iran, during the period from January to November 2014, to obtain information on consanguinity, disease history, and previous referral to a medical genetics center. For the collected data was obtained descriptive statistics with STATA 11.0 software. A total of 500 couples were questioned. Mean age was 24.8 ± 5.2 years. Almost one quarter (23.4%) of the couples were consanguineous. Consanguinity was almost twice as common in rural areas as in urban areas (33.9 vs. 19.2%, p = 0.001). Only a few couples (~3.0%) had ever been referred for genetic counseling. The main reason for previous genetic counseling was consanguinity (85.7%). The majority of the participants (96.3%) had never been tested for any genetic conditions. Our findings suggest that only a small proportion of couples in Khuzestan Province, Iran (Behbahan City) were receiving adequate genetics care. This may reflect the limited accessibility of such services, and inadequate awareness and education among the care providers.

Background and Objective: Complex regional pain syndrome (CRPS) is a chronic condition characterized by severe regional pain, allodynia, hyperalgesia, and functional impairment. The aim of this systematic review is to investigate whether a familial subtype of CRPS (fCRPS) exists and to determine whether people with fCRPS have specific characteristics. Methods: Databases CINAHL, Medline, PsycINFO, and PubMed were searched with no date limitation. Quality of reporting was assessed using the Scottish Intercollegiate Guidelines Network scale and the Joanna Briggs Institute's checklists. Results: Eight studies were included. Family relationships were defined as any immediate (i.e., parents or siblings) or blood relatives. A combination of participants with known or unknown causes for CRPS was recruited. The studies in this review support the potential for the existence of fCRPS, although this included less than 25% of those affected. People with potential fCRPS showed more severe symptoms, more sites involved, a higher percentage of spontaneous onset, and earlier age at onset. An elevated sibling recurrence risk ratio of 5.6 (95% confidence interval [CI], 3.0 to 9.8) was reported for people under 50. None of the studies established a pattern of heritability. Therefore, the most likely explanation for heritability would be a multifactorial model in which cumulative and interactive Gene × Environment effects may be involved. Conclusions: This systematic review supports the potential for the existence of fCRPS; however, all identified studies used uncontrolled case reports, case series, and case-control designs that cannot provide evidence of causation. Further studies are required to reveal the heritability and genetic structure of fCRPS.

Phelan-McDermid syndrome is characterized by a range of neurodevelopmental phenotypes with incomplete penetrance and variable expressivity. It is caused by a variable size and breakpoint microdeletions in the distal long arm of chromosome 22, referred to as 22q13.3 deletion syndrome, including the SHANK3 gene. Genetic defects in a growing number of neurodevelopmental genes have been shown to cause genome-wide disruptions in epigenomic profiles referred to as epi-signatures in affected individuals.

SETD1B is a component of a histone methyltransferase complex that specifically methylates Lys-4 of histone H3 (H3K4) and is responsible for the epigenetic control of chromatin structure and gene expression. De novo microdeletions encompassing this gene as well as de novo missense mutations were previously linked to syndromic intellectual disability (ID). Here, we identify a specific hypermethylation signature associated with loss of function mutations in the SETD1B gene which may be used as an epigenetic marker supporting the diagnosis of syndromic SETD1B-related diseases. We demonstrate the clinical utility of this unique epi-signature by reclassifying previously identified SETD1B VUS (variant of uncertain significance) in two patients.