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Leopard syndrome

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https://www.readbyqxmd.com/read/27729118/the-experience-of-bilateral-cochlear-implantation-in-a-child-with-leopard-syndrome
#1
Katrien Vermeire, Leslie Wexler, Andrea Vambutas
We present a 3-year old boy with Leopard syndrome. His clinical manifestations included a congenital bilateral sensorineural hearing loss. He underwent cochlear implantation on the right side at age 1 year and on the left side at age 1.5 years. The patient is doing very well and mainstreamed in a regular pre-school program with a teacher of the deaf and home based speech therapy. Bilateral cochlear implantation in the case of a child with Leopard syndrome can be successful.
November 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27666661/molecular-screening-strategies-for-nf1-like-syndromes-with-caf%C3%A3-au-lait-macules-review
#2
Jia Zhang, Ming Li, Zhirong Yao
Multiple café-au-lait macules (CALM) are usually associated with neurofibromatosis type 1 (NF1), one of the most common hereditary disorders. However, a group of genetic disorders presenting with CALM have mutations that are involved in human skin pigmentation regulation signaling pathways, including KIT ligand/KIT proto‑oncogene receptor tyrosine kinase and Ras/mitogen‑activated protein kinase. These disorders, which include Legius syndrome, Noonan syndrome with multiple lentigines or LEOPARD syndrome, and familial progressive hyperpigmentation) are difficult to distinguish from NF1 at early stages, using skin appearance alone...
November 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27659786/lentiginous-phenotypes-caused-by-diverse-pathogenic-genes-sash1-and-ptpn11-clinical-and-molecular-discrimination
#3
J Zhang, R Cheng, J Liang, C Ni, M Li, Z Yao
Pathogenic mutations in genes (SASH1 and PTPN11) can cause a rare genetic disorder associated with pigmentation defects and the well-known LEOPARD syndrome, respectively. Both conditions presented with lentiginous phenotypes. The aim of this study was to arrive at definite diagnoses of three Chinese boys with clinically suspected lentigines-related syndromes. ADAR1, ABCB6, SASH1 and PTPN11 were candidate genes for mutational screening. Sanger sequencing was performed to identify the mutations, whereas bioinformatic analysis was used to predict the pathogenicity of novel missense mutations...
October 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27562378/variations-in-multiple-syndromic-deafness-genes-mimic-non-syndromic-hearing-loss
#4
G Bademci, F B Cengiz, J Foster Ii, D Duman, L Sennaroglu, O Diaz-Horta, T Atik, T Kirazli, L Olgun, H Alper, I Menendez, I Loclar, G Sennaroglu, S Tokgoz-Yilmaz, S Guo, Y Olgun, N Mahdieh, M Bonyadi, N Bozan, A Ayral, F Ozkinay, M Yildirim-Baylan, S H Blanton, M Tekin
The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high degree of genetic heterogeneity. We analyzed whole exome sequencing data of 102 unrelated probands with apparently NSHL without a causative variant in known NSHL genes. We detected five causative variants in different SHL genes (SOX10, MITF, PTPN11, CHD7, and KMT2D) in five (4.9%) probands. Clinical re-evaluation of these probands shows that some of them have subtle syndromic findings, while none of them meets clinical criteria for the diagnosis of the associated syndrome (Waardenburg (SOX10 and MITF), Kallmann (CHD7 and SOX10), Noonan/LEOPARD (PTPN11), CHARGE (CHD7), or Kabuki (KMT2D)...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27484170/identification-of-a-ptpn11-hot-spot-mutation-in-a-child-with-atypical-leopard-syndrome
#5
Jia Zhang, Jinwen Shen, Ruhong Cheng, Cheng Ni, Jianying Liang, Ming Li, Zhirong Yao
LEOPARD syndrome (LS) is an autosomal dominant inherited disorder primarily caused by mutations in the PTPN11, RAF1 and BRAF genes. Characteristic features include lentigines, craniofacial dysmorphism, myocardium or valve abnormalities, eletrocardiographic conduction defects and deafness. LS, neurofibromatosis type 1, Noonan syndrome and Legius syndrome are a group of highly overlapped disorders termed 'RASopathies'. Therefore, clinical discrimination between these syndromes represents a huge challenge. The present study reports a young child diagnosed with LS via identification of a common p...
September 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27342409/male-fertility-and-skin-diseases
#6
M Badawy Abdel-Naser, Christos C Zouboulis
Male fertility can be affected by a variety of organs diseases, including the skin. Several genodermatoses affect the skin and several other organs including the male reproductive system, commonly in the form of cryptorchidism and hypogonadism. The most relevant syndromes are associated with dyschromias, such as deSanctis-Cacchione, poikiloderma congenital, LEOPARD, and H syndrome; others with ichthyosis, such as Rud, and trichothiodystrophy; or a group of unrelated genodermatoses, such as ablepharon macrostomia, Coffin-Siris, Gorlin-Goltz, and Werner...
June 25, 2016: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/27028808/-the-biological-function-of-shp2-in-human-disease
#7
S M Li
Tyrosyl phosphorylation participates in various pathological and physiological processes, which are regulated by protein tyrosine kinases (PTKs) and protein tyrosine phosphatases (PTPs). The Src homology-2 domain containing phosphatase SHP2 (encoded by PTPN11) is an important phosphatase, which was found to be implicated in the regulation of genetic disease, development, metabolic, neurological, muscle, skeletal disease and cancer. Germline mutations in PTPN11 cause the Noonan Syndrome, LEOPARD syndrome and metachondromatosis...
January 2016: Molekuliarnaia Biologiia
https://www.readbyqxmd.com/read/26924415/erratum-leopard-syndrome-and-multiple-granular-cell-tumors-an-underreported-association
#8
(no author information available yet)
[This corrects the article DOI: 10.4103/0378-6323.171642].
March 2016: Indian Journal of Dermatology, Venereology and Leprology
https://www.readbyqxmd.com/read/26805442/the-regulation-of-male-fertility-by-the-ptpn11-tyrosine-phosphatase
#9
REVIEW
Pawan Puri, William H Walker
PTPN11 (also known as SHP2) is a ubiquitously expressed non-receptor tyrosine phosphatase that regulates cell survival, proliferation, differentiation, migration and adhesion. Naturally occurring mutations in the PTPN11 gene cause Noonan and LEOPARD syndromes, two genetic disorders that are characterized by a spectrum of defects including male infertility. This review summarizes four cellular and molecular mechanisms by which PTPN11 acts to support male fertility. First, PTPN11 is required for the proliferation and survival of spermatogonial stem cells (SSCs) that are essential to replenish the germ cells that will become sperm...
November 2016: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/26632807/leopard-syndrome
#10
Sudip Kumar Ghosh, Biswajit Majumdar, Olympia Rudra, Sougat Chakraborty
LEOPARD syndrome (LS) is an autosomal dominantly inherited or sporadic disorder of variable penetrance and expressivity. The acronym LEOPARD stands for its cardinal clinical features including Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of genitalia, Retardation of growth, and Deafness. We present herein a patient with LEOPARD syndrome and distinctive features. It was noteworthy that our patient presented with the concern of generalized lentiginosis and subsequent evaluation revealed that the patient had LEOPARD syndrome...
October 16, 2015: Dermatology Online Journal
https://www.readbyqxmd.com/read/26467218/mutation-in-nras-in-familial-noonan-syndrome-case-report-and-review-of-the-literature
#11
REVIEW
Sara Ekvall, Maria Wilbe, Jovanna Dahlgren, Eric Legius, Arie van Haeringen, Otto Westphal, Göran Annerén, Marie-Louise Bondeson
BACKGROUND: Noonan syndrome (NS), a heterogeneous developmental disorder associated with variable clinical expression including short stature, congenital heart defect, unusual pectus deformity and typical facial features, is caused by activating mutations in genes involved in the RAS-MAPK signaling pathway. CASE PRESENTATION: Here, we present a clinical and molecular characterization of a small family with Noonan syndrome. Comprehensive mutation analysis of NF1, PTPN11, SOS1, CBL, BRAF, RAF1, SHOC2, MAP2K2, MAP2K1, SPRED1, NRAS, HRAS and KRAS was performed using targeted next-generation sequencing...
2015: BMC Medical Genetics
https://www.readbyqxmd.com/read/26446362/recent-advances-in-rasopathies
#12
REVIEW
Yoko Aoki, Tetsuya Niihori, Shin-ichi Inoue, Yoichi Matsubara
RASopathies or RAS/mitogen-activated protein kinase (MAPK) syndromes are a group of phenotypically overlapping syndromes caused by germline mutations that encode components of the RAS/MAPK signaling pathway. These disorders include neurofibromatosis type I, Legius syndrome, Noonan syndrome, Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome), Costello syndrome, cardiofaciocutaneous (CFC) syndrome, Noonan-like syndrome, hereditary gingival fibromatosis and capillary malformation-arteriovenous malformation...
January 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/26437287/generalized-lentiginosis-in-an-11-year-old-boy
#13
Maya Valeska Gozali, Bing-Rong Zhou, Dan Luo
Generalized lentiginosis refers to generalized lentigines without systemic abnormalities, characterized by multiple brown or black macules owing to increased proliferation of melanocytes. There are also lentiginosis syndromes associated with systemic abnormalities such as Peutz-Jeghers syndrome, Leopard syndrome, and Carney complex. Generalized lentiginosis can be diagnosis by patient's history, physical and laboratory examination, and histopathology. We report an 11-year-old boy who presented with multiple dark brown macules, varying in size, but less than 0...
September 2015: Dermatology Online Journal
https://www.readbyqxmd.com/read/26377839/phenotypical-diversity-of-patients-with-leopard-syndrome-carrying-the-worldwide-recurrent-p-tyr279cys-ptpn11-mutation
#14
Edina Nemes, Katalin Farkas, Barbara Kocsis-Deák, Andrea Drubi, Adrienn Sulák, Kornélia Tripolszki, Piroska Dósa, Lakatos Ferenc, Nikoletta Nagy, Márta Széll
LEOPARD syndrome (LS, OMIM 151100) is a rare monogenic disorder. The name is an acronym of its major features such as multiple lentigines, electrocardiographic conduction defects, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth and sensorineural deafness. LS develops due to mutations in the protein-tyrosine phosphatase nonreceptor-type 11, PTPN11. Here, we have investigated a 51-year-old Hungarian male patient affected by LS. Direct sequencing of the PTPN11 gene revealed a worldwide recurrent missense mutation (c...
December 2015: Archives of Dermatological Research
https://www.readbyqxmd.com/read/26337637/paraspinal-neurofibromas-and-hypertrophic-neuropathy-in-noonan-syndrome-with-multiple-lentigines
#15
Erin Conboy, Radhika Dhamija, Margaret Wang, Jing Xie, P James Dyck, Alina G Bridges, Robert J Spinner, Amy C Clayton, Robert E Watson, Ludwine Messiaen, Dusica Babovic-Vuksanovic
BACKGROUND: Noonan syndrome with multiple lentigines (NSML), formerly known as LEOPARD syndrome, is an autosomal-dominant disorder characterised by lentigines, EKG abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, growth retardation and deafness. There is significant clinical overlap between NSML and other disorders that result from dysregulated rat sarcoma/mitogen-activated protein kinase pathway (RASopathies). Except for neurofibromatosis type 1, other RASopathies are not known to be typically associated with neurogenic tumours...
February 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/26150740/braf-gene-from-human-cancers-to-developmental-syndromes
#16
REVIEW
Muhammad Ramzan Manwar Hussain, Mukhtiar Baig, Hussein Sheik Ali Mohamoud, Zaheer Ulhaq, Daniel C Hoessli, Ghaidaa Siraj Khogeer, Ranem Radwan Al-Sayed, Jumana Yousuf Al-Aama
The BRAF gene encodes for a serine/threonine protein kinase that participates in the MAPK/ERK signalling pathway and plays a vital role in cancers and developmental syndromes (RASopathies). The current review discusses the clinical significance of the BRAF gene and other members of RAS/RAF cascade in human cancers and RAS/MAPK syndromes, and focuses the molecular basis and clinical genetics of BRAF to better understand its parallel involvement in both tumourigenesis and RAS/MAPK syndromes-Noonan syndrome, cardio-facio-cutaneous syndrome and LEOPARD syndrome...
July 2015: Saudi Journal of Biological Sciences
https://www.readbyqxmd.com/read/26088100/functions-of-shp2-in-cancer
#17
REVIEW
Jie Zhang, Fei Zhang, Ruifang Niu
Diagnostics and therapies have shown evident advances. Tumour surgery, chemotherapy and radiotherapy are the main techniques in treat cancers. Targeted therapy and drug resistance are the main focus in cancer research, but many molecular intracellular mechanisms remain unknown. Src homology region 2-containing protein tyrosine phosphatase 2 (Shp2) is associated with breast cancer, leukaemia, lung cancer, liver cancer, gastric cancer, laryngeal cancer, oral cancer and other cancer types. Signalling pathways involving Shp2 have also been discovered...
September 2015: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/25975225/c-raf-deficiency-leads-to-hearing-loss-and-increased-noise-susceptibility
#18
Rocío de Iriarte Rodríguez, Marta Magariños, Verena Pfeiffer, Ulf R Rapp, Isabel Varela-Nieto
The family of RAF kinases transduces extracellular information to the nucleus, and their activation is crucial for cellular regulation on many levels, ranging from embryonic development to carcinogenesis. B-RAF and C-RAF modulate neurogenesis and neuritogenesis during chicken inner ear development. C-RAF deficiency in humans is associated with deafness in the rare genetic insulin-like growth factor 1 (IGF-1), Noonan and Leopard syndromes. In this study, we show that RAF kinases are expressed in the developing inner ear and in adult mouse cochlea...
October 2015: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/25919282/shp2-deficiency-in-chondrocytes-deforms-orofacial-cartilage-and-ciliogenesis-in-mice
#19
Nobuhiro Kamiya, Jingling Shen, Kazuo Noda, Megumi Kitami, Gen-Sheng Feng, Di Chen, Yoshihiro Komatsu
Congenital orofacial abnormalities are clinically seen in human syndromes with SHP2 germline mutations such as LEOPARD and Noonan syndrome. Recent studies demonstrate that SHP2-deficiency leads to skeletal abnormalities including scoliosis and cartilaginous benign tumor metachondromatosis, suggesting that growth plate cartilage is a key tissue regulated by SHP2. The role and cellular mechanism of SHP2 in the orofacial cartilage, however, remains unknown. Here, we investigated the postnatal craniofacial development by inducible disruption of Shp2 in chondrocytes...
November 2015: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/25917897/pathogenesis-of-multiple-lentigines-in-leopard-syndrome-with-ptpn11-gene-mutation
#20
Sei-Ichiro Motegi, Yoko Yokoyama, Sachiko Ogino, Kazuya Yamada, Akihiko Uchiyama, Buddhini Perera, Yuko Takeuchi, Hiroshi Ohnishi, Osamu Ishikawa
LEOPARD syndrome (LS) is an autosomal dominant condition with multiple anomalies, including multiple lentigines. LS is caused by mutations in PTPN11, encoding the protein tyrosine phosphatase, SHP-2. We report here 2 unrelated Japanese cases of LS with different PTPN11 mutations (p.Y279C and p.T468P). To elucidate the pathogenesis of multiple lentigines in LS, ultrastructural and immunohistochemical analyses of lentigines and non-lesional skin were performed. Numerous mature giant melanosomes in melanocytes and keratinocytes were observed in lentigines...
November 2015: Acta Dermato-venereologica
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