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https://www.readbyqxmd.com/read/28819016/a-syndromic-extreme-insulin-resistance-caused-by-biallelic-poc1a-mutations-in-exon-10
#1
Elisa Giorgio, Elisa Rubino, Alessandro Bruselles, Simone Pizzi, Innocenzo Rainero, Sergio Duca, Fabio Sirchia, Barbara Pasini, Marco Tartaglia, Alfredo Brusco
POC1A encodes a protein with a role in centriole assembly and stability, and in ciliogenesis. Biallelic loss of function mutations affecting POC1A cause SOFT syndrome, an ultra-rare condition characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis. Using exome sequencing, we identified a homozygous frameshift mutation (c.1047_1048dupC; p.G337Rfs*25) in a patient presenting with short stature, facial hirsutism, alopecia, dyslipidemia and extreme insulin resistance. The truncating variant affected exon 10, which is retained in only two of the three POC1A mature RNAs, due to alternative processing of the transcript...
August 17, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28817236/a-new-cul4b-variant-associated-with-a-mild-phenotype-and-an-exceptional-pattern-of-leukoencephalopathy
#2
Susann Weissbach, Marie-Christine Reinert, Janine Altmüller, Ralph Krätzner, Holger Thiele, Thorsten Rosenbaum, Peter Nürnberg, Jutta Gärtner
Cabezas type of X-linked syndromic intellectual disability (MRXSC; MIM300354) is a rare X-linked recessive intellectual disability characterized primarily by intellectual disability, short stature, hypogonadism, and gait abnormalities. It is caused by a wide spectrum of hemizygous variants in CUL4B. In a 10-year-old boy with an exceptional leukoencephalopathy pattern, we identified a new missense variant p.Leu329Gln in CUL4B using "Mendeliome" sequencing. However, his phenotype does not include the severe characteristics currently known for MRXSC...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28812454/risk-factors-for-intrapartum-acidemia-a-cohort-study
#3
Stina Wretler, Lennart Nordström, Sophie Graner, Malin Holzmann
PURPOSE: Birth acidemia is associated with short- and long-term morbidity in the child. Optimal intrapartum surveillance and timely interventions may reduce the incidence of these outcomes. Knowledge about conditions which increase the risks might be beneficial for optimal care. The aim with this study was to identify factors which increased the risk for lactacidemia in fetal scalp blood. MATERIALS AND METHODS: A secondary analysis of a cohort study performed at Karolinska University Hospital Stockholm Sweden between February 2009 and February 2011...
August 16, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28808977/skeletal-dysplasias-what-every-bone-health-clinician-needs-to-know
#4
REVIEW
Sarah M Nikkel
PURPOSE OF REVIEW: This review highlights how skeletal dysplasias are diagnosed and how our understanding of some of these conditions has now translated to treatment options. RECENT FINDINGS: The use of multigene panels, using next-generation sequence technology, has improved our ability to quickly identify the genetic etiology, which can impact management. There are successes with the use of growth hormone in individuals with SHOX deficiencies, asfotase alfa in hypophosphatasia, and some promising data for c-type natriuretic peptide for those with achondroplasia...
August 14, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28807865/novel-compound-heterozygous-mutations-identified-by-whole-exome-sequencing-in-a-japanese-patient-with-geroderma-osteodysplastica
#5
Ryojun Takeda, Masaki Takagi, Hiroyuki Shinohara, Hiroshi Futagawa, Satoshi Narumi, Tomonobu Hasegawa, Gen Nishimura, Hiroshi Yoshihashi
Geroderma osteodysplastica (GO) is a subtype of cutis laxa syndrome characterized by congenital wrinkly skin, a prematurely aged face, extremely short stature, and osteoporosis leading to recurrent fractures. GO exhibits an autosomal recessive inheritance pattern and is caused by loss-of-function mutations in GORAB, which encodes a protein important for Golgi-related transport. Using whole exome sequencing, we identified novel compound heterozygous nonsense mutations in the GORAB in a GO patient. The patient was a 14-year-old Japanese boy...
August 11, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28805616/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of-mosaicism-for-a-small-supernumerary-marker-chromosome-derived-from-chromosome-16
#6
Chih-Ping Chen, Tsang-Ming Ko, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Chien-Wen Yang, Chen-Wen Pan, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 16. CASE REPORT: A 28-year-old woman underwent amniocentesis at 17 weeks of gestation because of abnormal maternal serum screening for Down syndrome. Amniocentesis revealed a karyotype of 47,XY,+mar[5]/46,XY[9]. Parental karyotypes were normal. Prenatal ultrasound findings were unremarkable. Array comparative genomic hybridization (aCGH) analysis of cultured amniocytes revealed a de novo 16% gene dosage increase of 16q11...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28803524/endocrinopathies-in-paediatric-onset-neuromyelitis-optica-spectrum-disorder-with-aquaporin-4-aqp4-antibody
#7
Yael Hacohen, Silvia Messina, Hoong-Wei Gan, Sukhvir Wright, Saleel Chandratre, Maria Isabel Leite, Penny Fallon, Angela Vincent, Olga Ciccarelli, Evangeline Wassmer, Ming Lim, Jacqueline Palace, Cheryl Hemingway
The involvement of the diencephalic regions in neuromyelitis optica spectrum disorder (NMOSD) may lead to endocrinopathies. In this study, we identified the following endocrinopathies in 60% (15/25) of young people with paediatric-onset aquaporin 4-Antibody (AQP4-Ab) NMOSD: morbid obesity ( n = 8), hyperinsulinaemia ( n = 5), hyperandrogenism ( n = 5), amenorrhoea ( n = 5), hyponatraemia ( n = 4), short stature ( n = 3) and central hypothyroidism ( n = 2) irrespective of hypothalamic lesions...
August 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28802681/activated-fgfr3-promotes-bone-formation-via-accelerating-endochondral-ossification-in-mouse-model-of-distraction-osteogenesis
#8
Yusuke Osawa, Masaki Matsushita, Sachi Hasegawa, Ryusaku Esaki, Masahito Fujio, Bisei Ohgawara, Naoki Ishiguro, Kinji Ohno, Hiroshi Kitoh
Achondroplasia (ACH) is one of the most common short-limbed skeletal dysplasias caused by gain-of-function mutations in the fibroblast growth factor receptors 3 (FGFR3) gene. Distraction osteogenesis (DO) is a treatment option for short stature in ACH in some countries. Although the patients with ACH usually show faster healing in DO, details of the newly formed bone have not been examined. We have developed a mouse model of DO and analyzed new bone regenerates of the transgenic mice with ACH (Fgfr3(ach) mice) histologically and morphologically...
August 9, 2017: Bone
https://www.readbyqxmd.com/read/28796785/low-renal-but-high-extrarenal-phenotype-variability-in-schimke-immuno-osseous-dysplasia
#9
Beata S Lipska-Ziętkiewicz, Jutta Gellermann, Olivia Boyer, Olivier Gribouval, Szymon Ziętkiewicz, Jameela A Kari, Mohamed A Shalaby, Fatih Ozaltin, Jiri Dusek, Anette Melk, Aysun K Bayazit, Laura Massella, Lidia Hyla-Klekot, Sandra Habbig, Astrid Godron, Maria Szczepańska, Beata Bieniaś, Dorota Drożdż, Rasha Odeh, Wioletta Jarmużek, Katarzyna Zachwieja, Agnes Trautmann, Corinne Antignac, Franz Schaefer
Schimke immuno-osseous dysplasia (SIOD) is a rare multisystem disorder with early mortality and steroid-resistant nephrotic syndrome (SRNS) progressing to end-stage kidney disease. We hypothesized that next-generation gene panel sequencing may unsurface oligosymptomatic cases of SIOD with potentially milder disease courses. We analyzed the renal and extrarenal phenotypic spectrum and genotype-phenotype associations in 34 patients from 28 families, the largest SMARCAL1-associated nephropathy cohort to date. In 11 patients the diagnosis was made unsuspectedly through SRNS gene panel testing...
2017: PloS One
https://www.readbyqxmd.com/read/28794910/first-report-of-two-rare-entities-in-a-family-49-xxxxy-and-45-x
#10
Yavuz Şahin, Aysegül Özcan
49,XXXXY and 45,X syndromes are sex chromosome aneuploidies in which the affected individuals present with hypergonadotropic hypogonadism, short or long stature, and skeletal malformations. Psychological, endocrinological, and orthopaedic disorders constitute the major problems in the clinical follow-up. We report a family with two rare entities: 49,XXXXY and 45, X. Sex chromosome abnormalities should especially be in mind in the evaluation of patients with micropenis, mental retardation, and hypergonadotropic hypogonadism...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28793284/growth-hormone-therapy-in-children-with-kabuki-syndrome-1-year-treatment-results
#11
Dina A Schott, Willem J M Gerver, Constance T R M Stumpel
BACKGROUND/AIMS: Kabuki syndrome (KS) is a rare genetic malformation syndrome, resulting in characteristic features such as short stature. We investigate whether growth hormone (GH) treatment increases linear height and influences body proportions in KS children. METHODS: In this prospective study, 18 genetically confirmed prepubertal KS children (9 females and 9 males) aged from 3.8 to 10.1 years (mean 6.8 ± 2.1 years) were treated with recombinant human GH (rhGH) for 1 year...
August 9, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28777491/identification-of-stac3-variants-in-non-native-american-families-with-overlapping-features-of-carey-fineman-ziter-syndrome-and-moebius-syndrome
#12
Aida Telegrafi, Bryn D Webb, Sarah M Robbins, Carlos E Speck-Martins, David FitzPatrick, Leah Fleming, Richard Redett, Andreas Dufke, Gunnar Houge, Jeske J T van Harssel, Alain Verloes, Angela Robles, Irini Manoli, Elizabeth C Engle, Ethylin W Jabs, David Valle, John Carey, Julie E Hoover-Fong, Nara L M Sobreira
Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH). Here we present two non-Native American families, who were found to have STAC3 pathogenic variants. The first proband and her affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of Carey-Fineman-Ziter syndrome (CFZS) based on features of hypotonia, myopathic facies with generalized weakness, ptosis, normal extraocular movements, cleft palate, growth delay, and kyphoscoliosis...
August 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28777121/raf1-variants-causing-biventricular-hypertrophic-cardiomyopathy-in-two-preterm-infants-further-phenotypic-delineation-and-review-of-literature
#13
Danielle Thompson, Jessica Patrick-Esteve, Jeffrey W Surcouf, Dana Rivera, Bianca Castellanos, Pooja Desai, Christian Lilje, Yves Lacassie, Michael Marble, Regina Zambrano
Noonan syndrome (NS) is an autosomal dominant disorder characterized by distinctive facial features, short neck, short stature, congenital heart defects, pectus deformities, and variable developmental delays. NS is genetically heterogeneous as pathogenic variants in several genes involved in the Ras/mitogen-activated protein kinase pathway have been associated with a NS phenotype. Overall, 50% of patients harbor pathogenic variants in PTPN11, whereas 3-17% of patients have variants in RAF1. We present two premature neonates with progressive biventricular hypertrophy found to have RAF1 variants in the CR2 domain...
August 3, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28774346/tall-stature-a-difficult-diagnosis
#14
REVIEW
Cristina Meazza, Chiara Gertosio, Roberta Giacchero, Sara Pagani, Mauro Bozzola
Referral for an assessment of tall stature is less common than for short stature. Tall stature is defined as a height more than two standard deviations above the mean for age. The majority of subjects with tall stature show a familial tall stature or a constitutional advance of growth (CAG), which is a diagnosis of exclusion. After a careful physical evaluation, tall subjects may be divided into two groups: tall subjects with normal appearance and tall subjects with abnormal appearance. In the case of normal appearance, the paediatric endocrinologist will have to evaluate the growth rate...
August 3, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28774181/early-life-socioeconomic-conditions-height-and-functional-health-status-in-later-life-evidence-from-south-korea
#15
Yeonjin Lee
The article contributes to the literature on health inequalities by examining the associations between early-life socioeconomic status (SES), height, and functional limitations in later life among Korean men and women. The findings were based on 1562 men and 1801 women aged 50 to 79 years who participated in the 2005 Korean Labor and Income Panel Study (KLIPS). Among men, 17.8% reported having functional limitations, compared to 31.8% among women. The ordered logistic regression analyses showed that for Korean men, the relative contribution of early-life SES to functional health was less important than that of adult SES...
August 1, 2017: Asia-Pacific Journal of Public Health
https://www.readbyqxmd.com/read/28768959/next-generation-sequencing-based-mutation-screening-of-86-patients-with-idiopathic-short-stature
#16
Atsushi Hattori, Yuko Katoh-Fukui, Akie Nakamura, Keiko Matsubara, Tsutomu Kamimaki, Hiroyuki Tanaka, Sumito Dateki, Masanori Adachi, Koji Muroya, Shinobu Yoshida, Shinobu Ida, Marie Mitani, Keisuke Nagasaki, Tsutomu Ogata, Erina Suzuki, Kenichiro Hata, Kazuhiko Nakabayashi, Yoichi Matsubara, Satoshi Narumi, Toshiaki Tanaka, Maki Fukami
Although mutations in ACAN, FGFR3, NPR2, and SHOX typically lead to skeletal dysplasia, and mutations in GHRHR, GH1, GHR, STAT5B, IGF1, IGFALS, and IGF1R usually underlie hormonal defects of the growth hormone (GH)-insulin-like growth factor 1 (IGF1) axis, such mutations have also been identified in patients with idiopathic short stature (ISS). Of these, SHOX abnormalities are known to account for a certain percentage of ISS cases, whereas the frequency of mutations in the other 10 genes in ISS cohorts remains unknown...
August 3, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/28766551/mutation-in-the-cox4i1-gene-is-associated-with-short-stature-poor-weight-gain-and-increased-chromosomal-breaks-simulating-fanconi-anemia
#17
Bassam Abu-Libdeh, Liza Douiev, Sarah Amro, Maher Shahrour, Asaf Ta-Shma, Chaya Miller, Orly Elpeleg, Ann Saada
We describe a novel autosomal recessive form of mitochondrial disease in a child with short stature, poor weight gain, and mild dysmorphic features with highly suspected Fanconi anemia due to a mutation in COX4I1 gene. Whole Exome Sequencing was performed then followed by Sanger confirmation, identified a K101N mutation in COX4I1, segregating with the disease. This nuclear gene encodes the common isoform of cytochrome c oxidase (COX) subunit 4 (COX 4-1), an integral regulatory part of COX (respiratory chain complex IV) the terminal electron acceptor of the mitochondrial respiratory chain...
August 2, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28764823/silver-russell-syndrome-a-review
#18
Bernice Sophie Spiteri, Yanika Stafrace
Silver-Russell syndrome (SRS) is a rare congenital imprinting disorder. The genetic findings in SRS patients are heterogeneous and often sporadic. However, chromosomes 7, 11, and 17 are consistently involved in all individuals who meet the strict diagnostic criteria of SRS. There are many clinical features characteristic of SRS; the most common are low birth weight, short stature, triangular face, clinodactyly, relative macrocephaly, ear anomalies, and skeletal asymmetry.
July 1, 2017: Neonatal Network: NN
https://www.readbyqxmd.com/read/28763161/monoallelic-fgfr3-and-biallelic-alpl-mutations-in-a-thai-girl-with-hypochondroplasia-and-hypophosphatasia
#19
Thantrira Porntaveetus, Chalurmpon Srichomthong, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Skeletal dysplasias are a complex group of more than 350 disorders with phenotypic and genotypic heterogeneity affecting bone and cartilage growth. We studied a 2-year-old girl and her 21-year-old mother with disproportionate short stature. In addition to typical features of hypochondroplasia found in both patients, the child had deformities of the extremity bones, metaphyseal flares, and bilateral transverse (Bowdler) fibular spurs with overlying skin dimples detected at birth. Intravenous pamidronate was started in the child since the age of 17 days, and then every two months...
August 1, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28762211/low-prevalence-of-atrial-fibrillation-in-amerindians-a-population-based-study-in-frequent-fish-consumers-living-in-rural-coastal-ecuador-the-atahualpa-project
#20
Oscar H Del Brutto, Aldo F Costa, José A Cano, Ernesto Peñaherrera, Karin J Plaza, Ernesto A Ledesma, Daniel Tettamanti, Mauricio Zambrano
BACKGROUND: Information on the burden of atrial fibrillation (AF) in rural areas of developing countries is limited. Here, we aimed to assess AF prevalence in community-dwelling older adults living in rural Ecuador. METHODS: Atahualpa residents aged ≥60 years (mean age 70.5 ± 8.1 years) underwent 24-h Holter monitoring. Participants belong to the Amerindian ethnic group. The mean height in the study population was 147.9 ± 8.9 cm. Oily fish was a major source of food (mean intake: 8 ± 4 servings/week)...
July 31, 2017: Aging Clinical and Experimental Research
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