Atypical diabetes arising from SHORT syndrome: a case report

Atypical diabetes arising from SHORT syndrome: a case report

Short stature, joint hyperextension, ocular hypotension, Rieger abnormalities, and delayed tooth eruption (SHORT) syndrom is a rare primary autosomal dominant genetic disorder mainly caused by pathogenic loss-of-function variants in the phosphoinositide-3-kinase regulatory subunit 1 (PIK3R1) gene. W...

Full description

Saved in:

Bibliographic Details
Main Authors:	Aili Wang, Miao Xu, Li Li, Jialin Li
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2024-12-01
Series:	Frontiers in Endocrinology
Subjects:	SHORT syndrome PIK3R1 whole-exome sequencing insulin resistance therapy
Online Access:	https://www.frontiersin.org/articles/10.3389/fendo.2024.1467364/full
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Paradoxical dominant negative activity of an immunodeficiency-associated activating PIK3R1 variant
by: Patsy R Tomlinson, et al.
Published: (2025-01-01)

PIK3R1 mutations in individuals with insulin resistance or growth retardation: Case series and in silico functional analysis
by: Tomofumi Takayoshi, et al.
Published: (2025-08-01)

Congenital short bowel syndrome: a case report and review of the literature
by: E. Yu. Dyakonova, et al.
Published: (2020-11-01)

Molecular variants of multiple genes were revealed by whole-exome sequencing in PCOS patients with diabetes
by: Chenglin Wang
Published: (2025-05-01)

Genetic etiology and clinical features of non-syndromic pediatric obesity in the Chinese population: a large cohort study
by: Huang Hui, et al.
Published: (2025-05-01)

Case report: dual diagnosis of Mulibrey nanism and Jacobs syndrome in an Indian boy
by: Pritti Kumari, et al.
Published: (2025-04-01)

Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda
by: Esther Uwibambe, et al.
Published: (2025-05-01)

Eye and bone involvement is not always osteogenesis imperfecta: unravelling the second case of spondyloocular syndrome from India
by: Ajaz Qadir, et al.
Published: (2025-08-01)

Analysis of clinical phenotypes and genetic variations in two pedigrees affected with Weiss–Kruszka syndrome
by: Chunxiao Han, et al.
Published: (2024-11-01)

Uncovering somatic mosaic variants of PIK3CA-related overgrowth disorders – three cases with different clinical presentations
by: M. Tooming, et al.
Published: (2025-01-01)

A Novel Potentially Pathogenic DNAH5 Variant in a Patient with Kartagener’s Syndrome from Ardabil Province: A Case Report
by: Atabak Sedigh-Namin, et al.
Published: (2025-05-01)

Analyzing pathogenic variants in mismatch repair genes: personalized prevention strategies for lynch syndrome in Chinese families
by: Xiufang Wang, et al.
Published: (2025-03-01)

Safety findings from the phase 1/2 MOSAIC study of miransertib for patients with PIK3CA-related overgrowth spectrum or Proteus syndrome
by: Whitney Eng, et al.
Published: (2025-07-01)

Aryl hydrocarbon receptor interacting protein and syndromic gene variants detected in Turkish isolated pituitary adenoma families by whole exome sequencing
by: M. Eda Ertorer, et al.
Published: (2025-07-01)

The Relationship Of PIK R And PIK M Activities And Attitudes Towards Reproductive Health Behaviors In Adolescents In Pulo Lor Jombang
by: Nur Laila Faizah, et al.
Published: (2024-12-01)

Identification and Validation of Aging Related Genes Signature in Chronic Obstructive Pulmonary Disease
by: Tian-Tian Li, et al.
Published: (2024-12-01)

Diagnostic and clinical approach to a paediatric patient with skin aplasia of the head as a rare manifestation of Xia-Gibbs syndrome caused by a new, potentially pathogenic de novo mutation in the AHDC1 gene
by: Gabriela Ręka, et al.
Published: (2025-03-01)

Short Stature and Developmental Delay Associated With a Novel Frame‐Shift Mutation in ZNF292: Case Report and Literature Review
by: Li Dongxue, et al.
Published: (2025-08-01)

A novel noncanonical splicing pathogenic variant in PAX3 associated with Waardenburg Syndrome type 1 in an Iranian family
by: Mohsen Soosanabadi, et al.
Published: (2025-04-01)

GENETIC AND CLINICAL PROFILING OF MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE PATIENTS; SINGLE CENTER EXPERIENCE
by: Serdar Nepesov, et al.
Published: (2022-10-01)

Novel compound heterozygous DOCK6 variants expand the mutational spectrum in prenatal diagnosis of Adams-Oliver syndrome 2
by: Xue Zhong, et al.
Published: (2025-06-01)

Comparison of Genetic, Auditory Features, and Systemic Clinical Phenotype in 14 Families with Syndromic Hearing Loss
by: Zheng Z, et al.
Published: (2024-11-01)

Genetic analysis of four cases of Poirier Bienvenu neurodevelopmental syndrome associated with CSNK2B variant
by: Liu Yang, et al.
Published: (2025-04-01)

Shared chromatin remodeling mutations drive concurrent rhabdomyosarcoma and leukemia in a pediatric patient
by: Ji’ou Zhao, et al.
Published: (2025-06-01)

Genetic diagnosis and clinical characteristics analysis of cardiospondylocarpofacial syndrome in a Chinese family
by: Qi Yang, et al.
Published: (2025-08-01)

Molecular analysis of three DNA mismatch repair protein variants in Chinese families with suspected Lynch syndrome
by: Juyi Li, et al.
Published: (2025-07-01)

Oxcarbazepine may be an effective option for Chinese pediatric patients with self-limited focal epilepsy of neonatal/infantile onset: a retrospective cohort study
by: Na Sun, et al.
Published: (2025-04-01)

Clinical and genetic charsteristics of the Bosch–Boonstra–Schaaf syndrome due to novel mutations in the <i>NR2F1</i> gene
by: E. L. Dadali, et al.
Published: (2020-12-01)

Identification of a rare variant in TNNT3 responsible for familial dilated cardiomyopathy through whole-exome sequencing and in silico analysis
by: Motahareh Jadidi, et al.
Published: (2025-05-01)

Exploring the c.406 C > T variant in TNNI3 gene: pathogenic insights into restrictive cardiomyopathy
by: Tannaz Masoumi, et al.
Published: (2025-04-01)

Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways
by: Halima Alnaqbi, et al.
Published: (2025-07-01)

Identification of a novel SACS gene mutation leading to spastic ataxia Charlevoix-Saguenay type: a case report
by: Víctor Raggio, et al.
Published: (2025-08-01)

Identification of a Missense Mutation in the FLNC Gene from a Chinese Family with Restrictive Cardiomyopathy [Letter]
by: Idrus HH
Published: (2024-12-01)

Hepatolenticular degeneration-induced hepatic dysfunction with extremely atypical clinical manifestations: a Case Report
by: Zhuang Tao, et al.
Published: (2025-05-01)

FTO Facilitates Cervical Cancer Malignancy Through Inducing m6A‐Demethylation of PIK3R3 mRNA
by: Bingxin Chen, et al.
Published: (2024-12-01)

Clinical and genetic characterization of Lenz-Majewski syndrome with a PTDSS1 variant: a case report and literature review
by: Yahua Zhang, et al.
Published: (2025-08-01)

CEBPA-associated familial acute myeloid leukemia mimicking Werner syndrome: a case report
by: Tanguy Demaret, et al.
Published: (2025-04-01)

Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome
by: Deniz Torun, et al.
Published: (2022-10-01)

<i>SEMA6B</i>-related progressive myoclonus epilepsy in a patient with Klinefelter syndrome
by: T. V. Kozhanova, et al.
Published: (2024-04-01)

Compound heterozygous missense and intronic variants in B9D1 contribute to a recurrent Meckel syndrome pedigree
by: Huining Jing, et al.
Published: (2025-08-01)