Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades
Autosomal recessive SOPH syndrome was first described in the Yakuts population of Asia by Maksimova et al. in 2010. It arises from biallelic pathogenic variants in the NBAS gene and is characterized by severe postnatal growth retardation, senile facial appearance, small hands and feet, optic atrophy...
Published in: | American Journal of Medical Genetics Part A |
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ftunivchile:oai:repositorio.uchile.cl:2250/175417 2023-05-15T18:45:16+02:00 Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades Lacassie, Yves Johnson, Britt Lay-Son, Guillermo Quintana, Rita King, Andrew Cortés, Fanny Álvarez, Cecilia Gómez, Ricardo Vargas, Alfonso Chalew, Stuart King, Alejandra Guardia, Sylvia Sorensen, Ricardo U. Aradhya, Swaroop 2020 application/pdf https://doi.org/10.1002/ajmg.a.61597 https://repositorio.uchile.cl/handle/2250/175417 en eng Wiley American Journal of Medical Genetics Part A (Apr 2020) doi:10.1002/ajmg.a.61597 https://repositorio.uchile.cl/handle/2250/175417 American Journal of Medical Genetics Part A Combined immunodeficiency Diabetes mellitus Dwarfism and osteolysis Long survival Novel NBAS variant SOPH syndrome Acute liver-failure Amplified sequence gene Deficiency Onset Bone Artículo de revista 2020 ftunivchile https://doi.org/10.1002/ajmg.a.61597 2022-12-25T00:51:28Z Autosomal recessive SOPH syndrome was first described in the Yakuts population of Asia by Maksimova et al. in 2010. It arises from biallelic pathogenic variants in the NBAS gene and is characterized by severe postnatal growth retardation, senile facial appearance, small hands and feet, optic atrophy with loss of visual acuity and color vision, and normal intelligence (OMIM #614800). The presence of Pelger-Huet anomaly in this disorder led to its name as an acronym for Short stature, Optic nerve atrophy, and Pelger-Huet anomaly. Recent publications have further contributed to the characterization of this syndrome through additional phenotype-genotype correlations. We review the clinical features described in these publications and report on a 27-year-old woman with dwarfism with osteolysis and multiple skeletal problems, minor anomalies, immunodeficiency, diabetes mellitus, and multiple secondary medical problems. Her condition was considered an unknown autosomal recessive disorder for many years until exome sequencing provided the diagnosis by revealing a founder disease-causing variant that was compound heterozygous with a novel pathogenic variant in NBAS. Based on the major clinical features of this individual and others reported earlier, a revision of the acronym is warranted to facilitate clinical recognition. Article in Journal/Newspaper Yakuts Universidad de Chile: Repositorio académico Huet ENVELOPE(20.413,20.413,69.693,69.693) Maksimova ENVELOPE(66.250,66.250,-72.833,-72.833) American Journal of Medical Genetics Part A 182 7 1767 1775 |
institution |
Open Polar |
collection |
Universidad de Chile: Repositorio académico |
op_collection_id |
ftunivchile |
language |
English |
topic |
Combined immunodeficiency Diabetes mellitus Dwarfism and osteolysis Long survival Novel NBAS variant SOPH syndrome Acute liver-failure Amplified sequence gene Deficiency Onset Bone |
spellingShingle |
Combined immunodeficiency Diabetes mellitus Dwarfism and osteolysis Long survival Novel NBAS variant SOPH syndrome Acute liver-failure Amplified sequence gene Deficiency Onset Bone Lacassie, Yves Johnson, Britt Lay-Son, Guillermo Quintana, Rita King, Andrew Cortés, Fanny Álvarez, Cecilia Gómez, Ricardo Vargas, Alfonso Chalew, Stuart King, Alejandra Guardia, Sylvia Sorensen, Ricardo U. Aradhya, Swaroop Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades |
topic_facet |
Combined immunodeficiency Diabetes mellitus Dwarfism and osteolysis Long survival Novel NBAS variant SOPH syndrome Acute liver-failure Amplified sequence gene Deficiency Onset Bone |
description |
Autosomal recessive SOPH syndrome was first described in the Yakuts population of Asia by Maksimova et al. in 2010. It arises from biallelic pathogenic variants in the NBAS gene and is characterized by severe postnatal growth retardation, senile facial appearance, small hands and feet, optic atrophy with loss of visual acuity and color vision, and normal intelligence (OMIM #614800). The presence of Pelger-Huet anomaly in this disorder led to its name as an acronym for Short stature, Optic nerve atrophy, and Pelger-Huet anomaly. Recent publications have further contributed to the characterization of this syndrome through additional phenotype-genotype correlations. We review the clinical features described in these publications and report on a 27-year-old woman with dwarfism with osteolysis and multiple skeletal problems, minor anomalies, immunodeficiency, diabetes mellitus, and multiple secondary medical problems. Her condition was considered an unknown autosomal recessive disorder for many years until exome sequencing provided the diagnosis by revealing a founder disease-causing variant that was compound heterozygous with a novel pathogenic variant in NBAS. Based on the major clinical features of this individual and others reported earlier, a revision of the acronym is warranted to facilitate clinical recognition. |
format |
Article in Journal/Newspaper |
author |
Lacassie, Yves Johnson, Britt Lay-Son, Guillermo Quintana, Rita King, Andrew Cortés, Fanny Álvarez, Cecilia Gómez, Ricardo Vargas, Alfonso Chalew, Stuart King, Alejandra Guardia, Sylvia Sorensen, Ricardo U. Aradhya, Swaroop |
author_facet |
Lacassie, Yves Johnson, Britt Lay-Son, Guillermo Quintana, Rita King, Andrew Cortés, Fanny Álvarez, Cecilia Gómez, Ricardo Vargas, Alfonso Chalew, Stuart King, Alejandra Guardia, Sylvia Sorensen, Ricardo U. Aradhya, Swaroop |
author_sort |
Lacassie, Yves |
title |
Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades |
title_short |
Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades |
title_full |
Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades |
title_fullStr |
Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades |
title_full_unstemmed |
Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades |
title_sort |
severe soph syndrome due to a novel nbas mutation in a 27-year-old woman-review of this pleiotropic, autosomal recessive disorder: mystery solved after two decades |
publisher |
Wiley |
publishDate |
2020 |
url |
https://doi.org/10.1002/ajmg.a.61597 https://repositorio.uchile.cl/handle/2250/175417 |
long_lat |
ENVELOPE(20.413,20.413,69.693,69.693) ENVELOPE(66.250,66.250,-72.833,-72.833) |
geographic |
Huet Maksimova |
geographic_facet |
Huet Maksimova |
genre |
Yakuts |
genre_facet |
Yakuts |
op_source |
American Journal of Medical Genetics Part A |
op_relation |
American Journal of Medical Genetics Part A (Apr 2020) doi:10.1002/ajmg.a.61597 https://repositorio.uchile.cl/handle/2250/175417 |
op_doi |
https://doi.org/10.1002/ajmg.a.61597 |
container_title |
American Journal of Medical Genetics Part A |
container_volume |
182 |
container_issue |
7 |
container_start_page |
1767 |
op_container_end_page |
1775 |
_version_ |
1766236309171470336 |