Evidence map›Paper›PMID 39315526›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2024

Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency.

Athanasia Stoupa, Monica Malheiros Franca, Maha Abdulhadi-Atwan, Haruki Fujisawa, Manassawee Korwutthikulrangsri, Isis Marchand, Gabrielle Polak, Jacques Beltrand, Michel Polak, Dulanjalee Kariyawasam and 9 more

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Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

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0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

19 authors.

Athanasia StoupaPediatric Endocrinology, Gynecology and Diabetology Department, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France; Cochin Institute, Paris, and IMAGINE Institute affiliate, Paris, Université Paris Cité, France.
Monica Malheiros FrancaDepartment of Medicine, The University of Chicago, Chicago, IL.
Maha Abdulhadi-AtwanPediatric Endocrinology Department, Palestine Red Crescent Society Hospital, Hebron branch, Bethlehem, Palestine.
Haruki FujisawaDepartment of Medicine, The University of Chicago, Chicago, IL; Department of Endocrinology and Metabolism, Fujita Health University, Toyoake, Japan.
Manassawee KorwutthikulrangsriDepartment of Medicine, The University of Chicago, Chicago, IL; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Isis MarchandPediatric Department, Hôpital Intercommunal de Créteil, Créteil, France.
Gabrielle PolakFaculté de Médecine, Université Paris Cité, Paris, France.
Jacques BeltrandPediatric Endocrinology, Gynecology and Diabetology Department, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France; Cochin Institute, Paris, and IMAGINE Institute affiliate, Paris, Université Paris Cité, France.
Michel PolakPediatric Endocrinology, Gynecology and Diabetology Department, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France; Cochin Institute, Paris, and IMAGINE Institute affiliate, Paris, Université Paris Cité, France; Centre de référence des maladies endocriniennes rares de la croissance et du développement, Hôpital Universitaire Necker-Enfants Malades, Paris, France; Centre régional de dépistage néonatal (CRDN) Ile de France, Paris, France.
Dulanjalee KariyawasamPediatric Endocrinology, Gynecology and Diabetology Department, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France; Cochin Institute, Paris, and IMAGINE Institute affiliate, Paris, Université Paris Cité, France.
Xiao-Hui LiaoDepartment of Medicine, The University of Chicago, Chicago, IL.
Chantalle RaimondiAdvocate Children's Hospital, IL.
Connolly SteigerwaldDepartment of Neurology, NYU Grossman School of Medicine, NY.
Nicolas J AbreuDepartment of Neurology, NYU Grossman School of Medicine, NY.
Andrew J BauerChildren's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, PA.
Aurore CarréCochin Institute, Paris, and IMAGINE Institute affiliate, Paris, Université Paris Cité, France.
Charit TanejaDivision of Endocrinology, Diabetes and Metabolism, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Great Neck, NY.
Allison Bauman MekhoubadDivision of Pediatric Endocrinology, Northwell Health, Cohen Children's Medical Center, Lake Success, NY.
Alexandra M DumitrescuDepartment of Medicine, The University of Chicago, Chicago, IL; Committee of Molecular Metabolism and Nutrition, The University of Chicago, Chicago, IL. Electronic address: alexd@uchicago.edu.

Funding

THYROID PHYSIOLOGY STUDIES OF INHERITED DISORDERSR01DK015070 · NIDDK · UNIVERSITY OF CHICAGO · PI ANTONIO C BIANCO, Alexandra Mihaela Dumitrescu · 1986 to 2026
$8.1M
THYROID PHYSIOLOGY STUDIES OF INHERITED DISORDERSR37DK015070 · NIDDK · UNIVERSITY OF CHICAGO · PI REFETOFF, SAMUEL · 1989 to 2015
$5.6M
Mouse Sbp2 deficiency models the multi-system syndrome of human SBP2 defectsR01DK110322 · NIDDK · UNIVERSITY OF CHICAGO · PI DUMITRESCU, ALEXANDRA MIHAELA · 2016 to 2020
$1.8M
The pathophysiology of SBP2 abnormalitiesF32DK091016 · NIDDK · UNIVERSITY OF CHICAGO · PI DUMITRESCU, ALEXANDRA MIHAELA · 2011 to 2011
$57k
NIDDK NIH HHS F32 DK091016NIDDK NIH HHS R01 DK015070NIDDK NIH HHS R01 DK110322NIDDK NIH HHS R37 DK015070
6 · The paper itself

Abstract

purposeDefects in the gene encoding selenocysteine insertion sequence binding protein 2, SECISBP2, result in global impaired selenoprotein synthesis manifesting a complex syndrome with characteristic serum thyroid function tests due to impaired thyroid hormone metabolism. Knowledge about this multisystemic defect remains limited.

methodsGenetic and laboratory investigations were performed in affected members from 6 families presenting with short stature and failure to thrive.

resultsFour probands presented a complex neurodevelopmental profile, including absent speech, autistic features, and seizures. Pediatric neurological evaluation prompted genetic investigations leading to the identification of SECISBP2 variants before knowing the characteristic thyroid tests in 2 cases. Thyroid hormone treatment improved motor development, whereas speech and intellectual impairments persisted. This defect poses great diagnostic and treatment challenges for clinicians, as illustrated by a case that escaped detection for 20 years because SECISBP2 was not included in the neurodevelopmental genetic panel, and his complex thyroid status prompted antithyroid treatment instead.

conclusionThis syndrome uncovers the role of selenoproteins in humans. The severe neurodevelopmental disabilities manifested in 4 patients with SECISBP2 deficiency highlight an additional phenotype in this multisystem disorder. Early diagnosis and treatment are required, and long-term evaluation will determine the full spectrum of manifestations and the impact of therapy.

Indexed as

PhenotypeRNA-Binding ProteinsAdolescentAdultChildChild, PreschoolFemaleHumansInfantMaleNeurodevelopmental DisordersPedigreeSelenoproteinsThyroid HormonesRNA-Binding ProteinsSECISBP2 protein, humanSelenoproteinsThyroid HormonesNeurodevelopmental disorderSECISBP2SelenoproteinShort statureThyroid hormone metabolism defect

Identifiers

PMID39315526
PMCPMC11625595

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.