Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency
Defects 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...
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| Published in: | Genetics in medicine Vol. 26; no. 12; p. 101280 |
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| Main Authors: | , , , , , , , , , , , , , , , , , , |
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| Language: | English |
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01-12-2024
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| Abstract | Defects 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.
Genetic and laboratory investigations were performed in affected members from 6 families presenting with short stature and failure to thrive.
Four 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.
This 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. |
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| AbstractList | Defects 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.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.Genetic and laboratory investigations were performed in affected members from 6 families presenting with short stature and failure to thrive.METHODSGenetic and laboratory investigations were performed in affected members from 6 families presenting with short stature and failure to thrive.Four 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.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.This 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.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. Defects 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. Genetic and laboratory investigations were performed in affected members from 6 families presenting with short stature and failure to thrive. Four 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. This 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. Defects 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. Genetic and laboratory investigations were performed in affected members from six families presenting with short stature, failure to thrive. Four 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 two cases. Thyroid hormone treatment improved motor development, while speech and intellectual impairments persisted. This defect poses great diagnostic and treatment challenges for clinicians, as illustrated by a case that escaped detection for 20years, as SECISBP2 was not included in the neurodevelopmental genetic panel, and his complex thyroid status prompted anti-thyroid treatment instead. This syndrome uncovers the role of selenoproteins in humans. The severe neurodevelopmental disabilities manifested in four 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. |
| ArticleNumber | 101280 |
| Author | Abreu, Nicolas J. Liao, Xiao-Hui Bauer, Andrew J. Raimondi, Chantalle Dumitrescu, Alexandra M. Marchand, Isis Polak, Michel Abdulhadi-Atwan, Maha Polak, Gabrielle Korwutthikulrangsri, Manassawee Beltrand, Jacques Mekhoubad, Allison Bauman Carré, Aurore Steigerwald, Connolly Taneja, Charit Kariyawasam, Dulanjalee Franca, Monica Malheiros Fujisawa, Haruki Stoupa, Athanasia |
| Author_xml | – sequence: 1 givenname: Athanasia surname: Stoupa fullname: Stoupa, Athanasia organization: Pediatric Endocrinology, Gynecology and Diabetology Department, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France – sequence: 2 givenname: Monica Malheiros surname: Franca fullname: Franca, Monica Malheiros organization: Department of Medicine, The University of Chicago, Chicago, IL – sequence: 3 givenname: Maha surname: Abdulhadi-Atwan fullname: Abdulhadi-Atwan, Maha organization: Pediatric Endocrinology Department, Palestine Red Crescent Society Hospital, Hebron branch, Bethlehem, Palestine – sequence: 4 givenname: Haruki surname: Fujisawa fullname: Fujisawa, Haruki organization: Department of Medicine, The University of Chicago, Chicago, IL – sequence: 5 givenname: Manassawee surname: Korwutthikulrangsri fullname: Korwutthikulrangsri, Manassawee organization: Department of Medicine, The University of Chicago, Chicago, IL – sequence: 6 givenname: Isis surname: Marchand fullname: Marchand, Isis organization: Pediatric Department, Hôpital Intercommunal de Créteil, Créteil, France – sequence: 7 givenname: Gabrielle surname: Polak fullname: Polak, Gabrielle organization: Faculté de Médecine, Université Paris Cité, Paris, France – sequence: 8 givenname: Jacques surname: Beltrand fullname: Beltrand, Jacques organization: Pediatric Endocrinology, Gynecology and Diabetology Department, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France – sequence: 9 givenname: Michel surname: Polak fullname: Polak, Michel organization: Pediatric Endocrinology, Gynecology and Diabetology Department, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France – sequence: 10 givenname: Dulanjalee surname: Kariyawasam fullname: Kariyawasam, Dulanjalee organization: Pediatric Endocrinology, Gynecology and Diabetology Department, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France – sequence: 11 givenname: Xiao-Hui surname: Liao fullname: Liao, Xiao-Hui organization: Department of Medicine, The University of Chicago, Chicago, IL – sequence: 12 givenname: Chantalle surname: Raimondi fullname: Raimondi, Chantalle organization: Advocate Children’s Hospital, IL – sequence: 13 givenname: Connolly surname: Steigerwald fullname: Steigerwald, Connolly organization: Department of Neurology, NYU Grossman School of Medicine, NY – sequence: 14 givenname: Nicolas J. surname: Abreu fullname: Abreu, Nicolas J. organization: Department of Neurology, NYU Grossman School of Medicine, NY – sequence: 15 givenname: Andrew J. surname: Bauer fullname: Bauer, Andrew J. organization: Children’s Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, PA – sequence: 16 givenname: Aurore surname: Carré fullname: Carré, Aurore organization: Cochin Institute, Paris, and IMAGINE Institute affiliate, Paris, Université Paris Cité, France – sequence: 17 givenname: Charit surname: Taneja fullname: Taneja, Charit organization: Division of Endocrinology, Diabetes and Metabolism, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Great Neck, NY – sequence: 18 givenname: Allison Bauman surname: Mekhoubad fullname: Mekhoubad, Allison Bauman organization: Division of Pediatric Endocrinology, Northwell Health, Cohen Children’s Medical Center, Lake Success, NY – sequence: 19 givenname: Alexandra M. orcidid: 0000-0002-2743-770X surname: Dumitrescu fullname: Dumitrescu, Alexandra M. email: alexd@uchicago.edu organization: Department of Medicine, The University of Chicago, Chicago, IL |
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| Issue | 12 |
| Keywords | Short stature Thyroid hormone metabolism defect Selenoprotein Neurodevelopmental disorder SECISBP2 selenoprotein thyroid hormone metabolism defect short stature neurodevelopmental disorder |
| Language | English |
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