Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation

2016 ◽  
Vol 170 (5) ◽  
pp. 1155-1164 ◽  
Author(s):  
Alexandra Topa ◽  
Mar Tulinius ◽  
Anders Oldfors ◽  
Carola Hedberg-Oldfors
Keyword(s):  
Shwachman Diamond Syndrome ◽  
Neonatal Presentation

Shwachman–Diamond syndrome: Clinical manifestations and molecular genetics

2007 ◽  
Vol 148 (11) ◽  
pp. 513-519
Author(s):  
Melinda Erdős ◽  
László Maródi
Keyword(s):  
Molecular Genetics ◽  
Clinical Manifestations ◽  
Shwachman Diamond Syndrome

A Shwachman–Diamond-szindróma ritka, autoszomális recesszív öröklődésmenetű primer immunhiánybetegség, amelyre exocrin pancreaselégtelenség, metaphysealis dysostosis, növekedési retardáció, csontvelő-diszfunkció és visszatérő fertőzések jellemzők. A közleményben a szerzők ismertetik a betegség klinikumát, laboratóriumi eltéréseit, összefoglalják a kórkép molekuláris patomechanizmusával kapcsolatos ismereteket és kezelésének lehetőségeit. Bemutatják egy Magyarországon elsőként diagnosztizált Shwachman–Diamond-szindrómában szenvedő gyermek kórtörténetét, akinek alapbetegségét genetikai vizsgálattal igazolták. A klinikai képet congenitalis neutropenia, az exocrin pancreaselégtelenség következtében kialakuló súlyos malabsorptiós szindróma és visszatérő, gennyes bőr-, illetve alsó- és felső légúti fertőzések jellemezték. A Shwachman–Diamond-szindróma génjén két új, az irodalomban korábban még nem leírt mutációt (c.362A > C, p.N121T és c.523C > T, p.R175W) találtak. A beteg gyermek születendő testvérében praenatalis genetikai vizsgálatot végeztek, amely hordozó állapotot igazolt. Ennek alapján az anya dönthetett a terhesség kihordásáról.

Dysregulated microRNA Activity in Shwachman-Diamond Syndrome

2015 ◽  
Author(s):  
Carl Novina
Keyword(s):  
Shwachman Diamond Syndrome

scholarly journals Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Alyssa L. Kennedy ◽  
Kasiani C. Myers ◽  
James Bowman ◽  
Christopher J. Gibson ◽  
Nicholas D. Camarda ◽  
...  
Keyword(s):  
Somatic Mutations ◽  
Bone Marrow Failure ◽  
Subsequent Development ◽  
Genetic Constraints ◽  
Clonal Hematopoiesis ◽  
Clinical Surveillance ◽  
Clinical Consequences ◽  
Shwachman Diamond Syndrome ◽  
Mechanistic Basis ◽  
Selection Of

AbstractTo understand the mechanisms that mediate germline genetic leukemia predisposition, we studied the inherited ribosomopathy Shwachman-Diamond syndrome (SDS), a bone marrow failure disorder with high risk of myeloid malignancies at an early age. To define the mechanistic basis of clonal hematopoiesis in SDS, we investigate somatic mutations acquired by patients with SDS followed longitudinally. Here we report that multiple independent somatic hematopoietic clones arise early in life, most commonly harboring heterozygous mutations in EIF6 or TP53. We show that germline SBDS deficiency establishes a fitness constraint that drives selection of somatic clones via two distinct mechanisms with different clinical consequences. EIF6 inactivation mediates a compensatory pathway with limited leukemic potential by ameliorating the underlying SDS ribosome defect and enhancing clone fitness. TP53 mutations define a maladaptive pathway with enhanced leukemic potential by inactivating tumor suppressor checkpoints without correcting the ribosome defect. Subsequent development of leukemia was associated with acquisition of biallelic TP53 alterations. These results mechanistically link leukemia predisposition to germline genetic constraints on cellular fitness, and provide a rational framework for clinical surveillance strategies.

scholarly journals Shwachman-Diamond Syndrome

2013 ◽  
Vol 35 (6) ◽  
pp. 486-489 ◽  
Author(s):  
Jeffrey R. Andolina ◽  
Colleen B. Morrison ◽  
Alexis A. Thompson ◽  
Sonali Chaudhury ◽  
A. Kyle Mack ◽  
...  
Keyword(s):  
Shwachman Diamond Syndrome

scholarly journals Poland syndrome: neonatal presentation with axillary pterygium

2021 ◽  
Vol 14 (3) ◽  
pp. e241395
Author(s):  
Tânia dos Santos Mendo ◽  
Teresa Almeida ◽  
Ana Teresa Maria ◽  
Madalena Lopo Tuna
Keyword(s):  
Poland Syndrome ◽  
Neonatal Presentation

scholarly journals Sixth International Congress on Shwachman-Diamond syndrome: from patients to genes and back

2011 ◽  
Vol 1242 (1) ◽  
pp. 26-39 ◽  
Author(s):  
Johnson M. Liu ◽  
Jeffrey M. Lipton ◽  
Sridhar Mani
Keyword(s):  
International Congress ◽  
Shwachman Diamond Syndrome ◽  
Sixth International

scholarly journals Lithium effects on neutrophil motility in Shwachman-Diamond syndrome: evaluation by computer-assisted image analysis

2003 ◽  
Vol 123 (2) ◽  
pp. 369-370 ◽  
Author(s):  
Antonio Azzarà ◽  
Giovanni Carulli ◽  
Mario Petrini
Keyword(s):  
Image Analysis ◽  
Computer Assisted ◽  
Computer Assisted Image ◽  
Shwachman Diamond Syndrome

scholarly journals Incidence of Shwachman-Diamond syndrome

2012 ◽  
Vol 59 (7) ◽  
pp. 1334-1335 ◽  
Author(s):  
Antonella Minelli ◽  
Elena Nicolis ◽  
Zemira Cannioto ◽  
Daniela Longoni ◽  
Sandra Perobelli ◽  
...  
Keyword(s):  
Shwachman Diamond Syndrome
Sign in / Sign up

Export Citation Format

Share Document