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Dubowitz syndrome (DubS) is considered a recognizable syndrome characterized by a distinctive facial appearance and deficits in growth and development. There have been over 200 individuals reported with Dubowitz or a "Dubowitz‐like" condition, although no single gene has been implicated as responsible for its cause. We have performed exome (ES) or genome sequencing (GS) for 31 individuals clinically diagnosed with DubS. After genome‐wide sequencing, rare variant filtering and computational and Mendelian genomic analyses, a presumptive molecular diagnosis was made in 13/27 (48%) families. The molecular diagnoses included biallelic variants in SKIV2L, SLC35C1, BRCA1, NSUN2; de novo variants in ARID1B, ARID1A, CREBBP, POGZ, TAF1, HDAC8, and copy‐number variation at1p36.11(ARID1A), 8q22.2(VPS13B), Xp22, and Xq13(HDAC8). Variants of unknown significance in known disease genes, and also in genes of uncertain significance, were observed in 7/27 (26%) additional families. Only one gene, HDAC8, could explain the phenotype in more than one family (N = 2). All but two of the genomic diagnoses were for genes discovered, or for conditions recognized, since the introduction of next‐generation sequencing. Overall, the DubS‐like clinical phenotype is associated with extensive locus heterogeneity and the molecular diagnoses made are for emerging clinical conditions sharing characteristic features that overlap the DubS phenotype. [ABSTRACT FROM AUTHOR]

Background: To assessFactor V Leiden (FVL)(rs6025),Prothrombin G20210A(rs1799963),MTHFR C677T(rs1801133), andMTHFR A1298C(rs1801131) gene mutations as risk factors in the development of retinopathy of prematurity (ROP). Materials and methods: A total of 105 children were included in this cross-sectional study. Patients were divided into two groups. The study group consisted of 55 infants with a history of ROP and the control group comprised 50 healthy infants with term birth. All subjects were screened for the presence of certain mutations (FVL, Prothrombin G20210A, MTHFR C677TandMTHFR A1298C) by Real-Time PCR at 1 year of age. Results: The mean gestational age (GA) and birth weight (BW) of the study group were, 28.65 ± 2.85 weeks and 1171 ± 385.74 g, respectively. There were no significant differences of genotype and allele frequency ofProthrombin G20210A, MTHFR A1298CandMTHFR C677Tbetween the study and control groups (p> 0.05). Eight children (14.5 %) had heterozygous and one child (1.8%) had homozygousFVLmutation in the study group. One child (2%) in the control group had heterozygousFVLmutation. There was statistically significant differences ofFVLallele and genotype frequencies between the groups (p< 0.05). Conclusions: The prevalence ofFVLpolymorphism (16.3 %) was higher in ROP patients than control subjects in this Turkish cohort. We suggest a possible association ofFVLmutation with ROP at the end of the study. [ABSTRACT FROM AUTHOR]

Background/aim: Neural tube defects (NTDs) are common congenital malformations that develop as a result of interactions between several genes and environmental factors. Many factors have been investigated in order to understand the etiology of NTDs, and many studies have identified folate intake as a common contributing factor. The exact etiology of the disease is still unknown. Materials and methods: In this study, we compared serum folate, vitamin B12, and homocysteine levels, along with common thrombophilia-related genetic variations, including factor V Leiden, factor II g.20210G>A, MTHFR c.677C>T, and MTHFR c.1298A>C, in 35 pregnant women with fetal NTDs and 38 pregnant women with healthy fetuses. Results: A significant difference in serum vitamin B12 level and factor V Leiden frequency was detected between the two groups. On the other hand, serum folate, homocysteine levels, and factor II g.20210G>A, MTHFR c.677C>T, and MTHFR c.1298A>C were not significantly different in the NTD group compared to the controls. Conclusion: These results indicate that vitamin B12 supplementation along with folate may help in lowering NTD frequency. In addition, this is the first study that provides evidence for a possible relationship between increased NTD risk and factor V Leiden. [ABSTRACT FROM AUTHOR]

Objectives: Our aim was to evaluate ultrasound findings and perinatal outcome after prenatal diagnosis of lymphangioma.Methods: This was a retrospective case series study. We searched the archives of our ultrasound database at our center for cases with the prenatal diagnosis of the lymphangioma in the period between January 2008 and November 2014. We described maternal, fetal and perinatal variables for all cases.Results: Nine fetuses with lymphangioma were identified. All cases were diagnosed during the second and third trimesters with the average gestational age of 22.6 ± 3.9 weeks. The average diameter of lymphangioma was 55.4 ± 20.1 mm at the time of diagnosis. Five fetuses (55.6%) had lymphangioma on the neck, and four fetuses (44.4%) had lymphangioma on other localizations. Normal fetal karyotype was detected in all cases. There were a total of six live births, one intrauterine death and two medical terminations of pregnancy following the diagnosis of lymphangioma. No abnormal Doppler finding or hydrops were detected in the antenatal follow-up of remaining six cases.Conclusion: The risk of chromosomal abnormalities is very low in pregnancies with isolated lymphangioma. The outcome of pregnancies with lymphangioma is generally favorable and prognosis depends on their locations and size. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Kartal Training & Research Hospital / Kartal Egitim ve Arastirma Hastanesi Tip Dergisi is the property of KARE Publishing and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Oral-facial-digital syndrome type VI (OFDVI) is a rare ciliopathy in the spectrum of Joubert syndrome (JS) and distinguished from other oral-facial-digital syndromes by metacarpal abnormalities with central polydactyly and by a molar tooth sign on cranial MRI. Additional characteristic features include short stature, micrognathia, posteriorly rotated low-set ears, hypertelorism, epicanthal folds, broad nasal tip, tongue hamartoma, upper lip notch, intraoral frenula, cleft lip/palate, and renal anomalies. Recently, novel mutations in C5orf42 were identified in 9 out of 11 OFDVI families. In a subsequent study C5orf42 was found to be mutated in only 2 out of 17 OFDVI probands while 28 patients with a pure JS phenotype also had pathogenic mutations of C5orf42. We report on two affected cousins diagnosed with OFDVI who were born from first degree cousin marriages. Whole exome sequencing (WES) identified a homozygous predicted damaging missense mutation (c.4034A > G; p.Gln1345Arg) in the C5orf42 gene. Our data contribute to the evidence that C5orf42 is one of the causative genes for OFDVI. © 2015 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Whole-exome sequencing (WES) is a type of disruptive technology that has tremendous influence on human and clinical genetics research. An efficient and cost-effective method, WES is now widely used as a diagnostic tool for identifying the molecular basis of genetic syndromes that are often challenging to diagnose. Here we report a patient with a clinical diagnosis of cerebro-facio-thoracic dysplasia (CFTD; MIM#213980) in whom we identified a homozygous splice-site mutation in the transmembrane and coiled-coil domains 1 (TMCO1) gene using WES. TMCO1 mutations cause craniofacial dysmorphism, skeletal anomalies characterized by multiple malformations of the vertebrae and ribs, and intellectual disability (MIM#614132). A retrospective review revealed that clinical manifestations of both syndromes are very similar and overlap remarkably. We propose that mutations of TMCO1 are not only responsible for craniofacial dysmorphism, skeletal anomalies and mental retardation syndrome but also for CFTD. [ABSTRACT FROM AUTHOR]

The article presents the case study of a 27-year-old pregnant woman with suspected vetriculomegaly. The patient's medical history is discussed which is unremarkable, however ultrasound scan of her fetus revealed bilateral severe ventriculomegaly with absence of cavum septum pellucidi and dilated third ventricle. The fetus was diagnosed rhombencephalosynapsis which has poor prognosis and the parents opted to terminate the pregnancy.

Copyright of Journal of Kartal Training & Research Hospital / Kartal Egitim ve Arastirma Hastanesi Tip Dergisi is the property of KARE Publishing and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: Our aim was to evaluate ultrasound findings and perinatal outcome after prenatal diagnosis of lymphangiomas Methods: We searched the archives of our ultrasound database at our center for cases with a prenatal diagnosis of the lymphangioma in the period from 2008 to 2013. We described maternal, fetal and perinatal variables for all cases. Results: Seven fetuses were diagnosed in our center as having the lymphangioma between 2008 and 2013. All cases were diagnosed during the second and third trimesters with the average gestational age of 24±4 weeks. The average diameter of lymphangioma were 58.4±22.5 mm at time of diagnosis. Four of the seven fetuses (57.1%) had lymphangioma in the neck. Three of the seven fetuses (42.9%) had lymphangioma in locations other than fetal neck. Fetal karyotyping was normal in all cases. Two of these fetuses was terminated. No abnormal doppler finding or hydrops were detected in the antenatal follow-up of remaining five cases. Cesarean section was performed due to dystocia for all cases. Conclusion: The risk of chromosomal abnormalities is very low in pregnancies with isolated lymphangioma. The outcome of pregnancies with lymphangioma is generally favorable and prognosis depends on their locations and size. [ABSTRACT FROM AUTHOR]