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Beili Chen, Lin Li, Jing Wang, Tengyan Li, Hong Pan, Beihong Liu, Yiran Zhou, Yunxia Cao, Binbin Wang
BACKGROUND: To dissect the genetic alteration in two sisters with premature ovarian insufficiency (POI) from a consanguineous family. METHODS: Whole-exome sequencing technology was used in the POI proband, bioinformatics analysis was carried out to identify the potential genetic cause in this pedigree. Sanger sequencing analyses were performed to validate the segregation of the variant within the pedigree. In silico analysis was also used to predict the effect and pathogenicity of the variant...
June 18, 2018: Journal of Ovarian Research
Osama Al Wutayd, Ashri Gad Mohamed, Jameelah Saeedi, Hessa Al Otaibi, Mohammed Al Jumah
BACKGROUND: Multiple sclerosis (MS) is the most common non-traumatic condition that leads to disability among young individuals. It is associated with demyelination, inflammation, and neurodegeneration within the central nervous system. Information on risk factors of multiple sclerosis is crucial for the prevention and control of the disease. The aim of this study was to determine risk factors of MS among adults in Saudi Arabia. METHODS: A matched multicenter case-control study, including 307 MS patients and 307 healthy controls, was conducted in MS clinics and wards in 3 main cities of Saudi Arabia...
June 19, 2018: BMC Neurology
C Chen, X Xu, L Kong, P Li, F Zhou, S Zhao, X Xin, J Tan, X Zhang
Empty follicle syndrome (EFS) is a disorder associated with female infertility and presents as a complete failure to retrieve oocytes during ART cycles despite normal follicle development and careful aspiration. To date, only two EFS cases have been reported with homozygous missense mutations in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene, and both cases showed normal estradiol (E2) production during ovulation induction. The molecular genetic mechanisms of EFS remain unknown. Herein, we report two novel homozygous inactivating LHCGR mutations, c...
June 15, 2018: Human Reproduction
Allison J Cox, Polly J Ferguson
PURPOSE OF REVIEW: To summarize the current advances in our understanding or the genetic basis of nonbacterial osteomyelitis. RECENT FINDINGS: Chronic recurrent multifocal osteomyelitis (CRMO) is a complex genetic disorder. Past discoveries identified several single gene defects (LPIN2, Pstpip2 and IL1RN) that cause IL-1-mediated sterile multifocal osteomyelitis. Recently Lorden et al.'s studies show that LIPIN2 deficiency can activate the NLRP3 inflammasome through alterations in the function of P2X7 receptor providing evidence that Majeed syndrome is an NLRP3 inflammasomopathy...
June 13, 2018: Current Opinion in Rheumatology
Fionnuala Mone, Fionnuala M McAuliffe, Sally Ann Lynch
Irish Travellers are an endogamous nomadic ethnic minority population mostly resident on the island of Ireland with smaller populations living in Europe & USA. As they practice consanguinity, rare and ultra-rare autosomal recessive conditions are observed which are infrequently seen in the general population. Awareness of the rare genetic disorders within an antenatal setting that recur within this population should facilitate quicker cost-effective diagnosis. These include disorders leading to recurrent miscarriage and multiple congenital anomalies...
June 9, 2018: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Stefanie Frey-Jakobs, Julia M Hartberger, Manfred Fliegauf, Claudia Bossen, Magdalena L Wehmeyer, Johanna C Neubauer, Alla Bulashevska, Michele Proietti, Philipp Fröbel, Christina Nöltner, Linlin Yang, Jessica Rojas-Restrepo, Niko Langer, Sandra Winzer, Karin R Engelhardt, Cristina Glocker, Dietmar Pfeifer, Adi Klein, Alejandro A Schäffer, Irina Lagovsky, Idit Lachover-Roth, Vivien Béziat, Anne Puel, Jean-Laurent Casanova, Bernhard Fleckenstein, Stephan Weidinger, Sara S Kilic, Ben-Zion Garty, Amos Etzioni, Bodo Grimbacher
Signal transducer and activator of transcription 3 (STAT3) is a central regulator of immune homeostasis. STAT3 levels are strictly controlled, and STAT3 impairment contributes to several diseases including the monogenic autosomal-dominant hyper-immunoglobulin E (IgE) syndrome (AD-HIES). We investigated patients of four consanguineous families with an autosomal-recessive disorder resembling the phenotype of AD-HIES, with symptoms of immunodeficiency, recurrent infections, skeletal abnormalities, and elevated IgE...
June 15, 2018: Science Immunology
Çiğdem Seher Kasapkara, Meltem Akçaboy, Fehime Kara Eroğlu, Betül Emine Derinkuyu
Mucolipidoses are metabolic disorders with autosomal recessive inheritance caused by deficiency of N-acetylglucosamine- 1-phosphotransferase leading to accumulation of glycosaminoglycans and sphingolipids intracellularly. The differential diagnosis of mucolipidosis II or III is based on the age of onset, clinical findings and degree of severity. In this article, we present four pediatric patients with mucolipidosis III or pseudo-Hurler polydystrophy who admitted to our hospital with joint stiffness. They were from consanguineous families with characteristic radiographic findings...
March 2018: Archives of Rheumatology
Sadanandvalli R Chandra, Rita Christopher, Mane M Daryappa, Rashmi Devaraj
Introduction: Phenyl ketonuria is an inborn error of amino acid metabolism resulting in excessive phenyl alanine levels in blood resulting in a spectrum of neurological defects. Patients and Methods: We retrospectively went through the records of patients diagnosed as Phenyl ketonuria in the last nine years in our team and patients who's data could be accessed were analyzed in detail. Details of laboratory tests, imaging clinical features, course were recorded. Observation: A total of 32 patients were identified in nine years of which data was available only for 15 patients...
January 2018: Journal of Pediatric Neurosciences
Faruk Incecık, Ozlem M Herguner, Mehmet N Ozbek, Serdal Gungor, Mustafa Yılmaz, Wiliam B Rizzo, Gülen G Mert
Background: The neuro-ichthyotic diseases are clinically and genetically heterogeneous. The purpose of this study was to evaluate the clinical and neuroradiological findings and to analyze mutation in 15 patients with neuro-ichthyotic diseases. Materials and Methods: We retrospectively analyzed the records of 15 patients with the diagnosis of neuro-ichthyotic diseases. Results: Eight female and seven male patients (age range 11 months-52 years) were investigated...
January 2018: Journal of Pediatric Neurosciences
Can Dai, Liang Hu, Fei Gong, Yueqiu Tan, Sufen Cai, Shuoping Zhang, Jing Dai, Changfu Lu, Jing Chen, Yongzhe Chen, Guangxiu Lu, Juan Du, Ge Lin
PURPOSE: The oocyte-borne genetic causes leading to fertilization failure are largely unknown. We aimed to identify novel human pathogenic variants (PV) and genes causing fertilization failure. METHODS: We performed exome sequencing for a consanguineous family with a recessive inheritance pattern of female infertility characterized by oocytes with a thin zona pellucida (ZP) and fertilization failure in routine in vitro fertilization. Subsequent PV screening of ZP2 was performed in additional eight unrelated infertile women whose oocytes exhibited abnormal ZP and similar fertilization failure...
June 12, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Abdelhafid Houba, Nisrine Laaribi, Mohammed Meziane, Abdelhamid Jaafari, Khalil Abouelalaa, Mustapha Bensghir
BACKGROUND: A stroke in a baby is uncommon, recent studies suggested that their incidence is rising. Moyamoya disease is one of the leading causes of stroke in babies. This condition is mostly described in Japan. In Morocco, moyamoya disease has rarely been reported and a few cases were published. We report a rare Moroccan case of a 23-month-old baby boy who presented with left-sided hemiparesis and was diagnosed as having moyamoya disease. CASE PRESENTATION: A 23-month-old full-term Moroccan baby boy born to a non-consanguineous couple was referred to our hospital with the complaint of sudden onset left-sided hemiparesis...
June 13, 2018: Journal of Medical Case Reports
Neelam Sultan, Irfan Ali, Shazia Anwer Bukhari, Shahid Mahmood Baig, Muhammad Asif, Muhammad Qasim, Muhammad Imran Naseer, Mahmood Rasool
Retinitis pigmentosa (RP) is the most frequent genetically and clinically heterogeneous inherited retinal degeneration. To date, more than 80 genes have been identified that cause autosomal dominant, autosomal recessive and X linked RP. However, locus and allelic heterogeneity of RP has not been fully captured yet. This heterogeneity and lack of an accurate genotype phenotype correlation makes molecular dissection of the disease more difficult. The present study was designed to characterize the underlying pathogenic variants of RP in Pakistan...
May 2018: Genes & Genomics
Reza Alibakhshi, Keivan Moradi, Mostafa Biglari, Samaneh Shafieenia
Phenylketonuria (PKU) is one of the most common known inherited metabolic diseases. The present study aimed to investigate the status of molecular defects in phenylalanine hydroxylase ( PAH ) gene in western Iranian PKU patients (predominantly from Kermanshah, Hamadan, and Lorestan provinces) during 2014-2016. Additionally, the results were compared with similar studies in Iran. Nucleotide sequence analysis of all 13 exons and their flanking intronic regions of the PAH gene was performed in 18 western Iranian PKU patients...
May 2018: Iranian Journal of Medical Sciences
Chunli Wei, Lisha Yang, Jingliang Cheng, Saber Imani, Shangyi Fu, Hongbin Lv, Yumei Li, Rui Chen, Elaine Lai-Han Leung, Junjiang Fu
BACKGROUND: Usher syndrome (USH) is a common heterogeneous retinopathy and a hearing loss (HL) syndrome. However, the gene causing Usher syndrome type IIC (USH2C) in a consanguineous Chinese pedigree is unknown. METHODS: We performed targeted next-generation sequencing analysis and Sanger sequencing to explore the GPR98 mutations in a USH2C pedigree that included a 32-year-old male patient from a consanguineous marriage family. Western blot verified the nonsense mutation...
June 11, 2018: BMC Medical Genetics
Silvio Alessandro Di Gioia, Sherin Shaaban, Beyhan Tüysüz, Nursel H Elcioglu, Wai-Man Chan, Caroline D Robson, Kirsten Ecklund, Nicole M Gilette, Azmi Hamzaoglu, Gulsen Akay Tayfun, Elias I Traboulsi, Elizabeth C Engle
MYF5 is member of the Myc-like basic helix-loop-helix transcription factor family and, in cooperation with other myogenic regulatory factors MYOD and MYF5, is a key regulator of early stages of myogenesis. Here, we report three consanguineous families with biallelic homozygous loss-of-function mutations in MYF5 who define a clinical disorder characterized by congenital ophthalmoplegia with scoliosis and vertebral and rib anomalies. The clinical phenotype overlaps strikingly with that reported in several Myf5 knockout mouse models...
May 30, 2018: American Journal of Human Genetics
Gönül Çatli, Haruki Fujisawa, Özgür Kırbıyık, Mizuho S Mimoto, Pinar Gencpinar, Taha Reşid Özdemir, Bumin Nuri Dündar, Alexandra M Dumitrescu
SECISBP2 is an essential factor in selenoprotein synthesis and its mutations result in a multiorgan syndrome including abnormal thyroid hormone metabolism. A ten-year-old obese Turkish boy born to consanguineous parents presented with high T4, low T3, high rT3 and normal or slightly elevated TSH. He also had attention deficit disorder and muscle weakness but no delay in growth or bone age. Sequencing of genomic DNA revealed a novel c.800_801insA, p.K267Kfs*2 mutation, homozygous in the proband and heterozygous in both parents and his brother...
June 8, 2018: Thyroid: Official Journal of the American Thyroid Association
H Hengel, R Keimer, W Deigendesch, A Rieß, H Marzouqa, J Zaidan, P Bauer, L Schöls
Various genetic defects can cause intellectual and developmental disabilities (IDD). Often IDD is a symptom of a more complex neurodevelopmental or neurodegenerative syndrome. Identifying syndromic patterns is substantive for diagnostics and for understanding the pathomechanism of a disease. Recessive GPT2 mutations have recently been associated with IDD in four families. Here, we report a novel recessive GPT2 stop mutation p.Gln24* causing a complex IDD phenotype in a homozygous state in five patients from two consanguineous Arab families...
June 7, 2018: Clinical Genetics
Zakia Sefsafi, Brahim El Hasbaoui, Amina Kili, Aomar Agadr, Mohammed Khattab
Macrophage activation syndrome (MAS) is a severe and potentially fatal life-threatening condition associated with excessive activation and expansion of T cells with macrophages and a high expression of cytokines, resulting in an uncontrolled inflammatory response, with high levels of macrophage colony-stimulating factor and causing multiorgan damage. This syndrome is classified into primary (genetic/familial) or secondary forms to several etiologies, such as infections, neoplasias mainly hemopathies or autoimmune diseases...
2018: Pan African Medical Journal
Uzair Yaqoob, Mannan Ali Khan, Lavina Khemani, Faizan -Ul-Haq, Javeryah Rafiq, Ayesha Syed Iftikhar
Introduction Caring for a child with diabetes often has a negative effect on the mental health of caregivers and other family members. The goal of this study was to determine the effect of caring for children with diabetes on the mental health of caregivers. Materials and methods This case-control study was conducted in the National Institute of Child Health from October to November 2017 to compare the mental health effects associated with caring for children with diabetes as against caring for children without diabetes...
April 2, 2018: Curēus
H Berrani, T Meskini, M Zerkaoui, H Merhni, S Ettair, A Sefiani, N Mouane
BACKGROUND: Allgrove syndrome is a rare autosomal recessive disorder characterized by the triad of achalasia, alacrimia and adrenal insufficiency. It is caused by the mutations of the AAAS gene located on chromosome 12q13. The c.1331 + 1G > A mutation is one of the most common described in North Africa including Tunisia, Algeria and Libya. We report here the clinical and genetic profile of a Moroccan family with Allgrove syndrome. CASE PRESENTATION: A Moroccan sister and brother born to consanguineous parents were found, at the ages of twelve and fifteen months old respectively, to have alacrimia and isolated glucocorticoid deficiency...
June 4, 2018: BMC Pediatrics
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