Young Simpson Syndrome

Last update 08 May 2025

Basic Info

Synonyms

Blepharophimosis and Mental Retardation Syndrome, Say-Barber-Biesecker-Young-Simpson Type, Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type, Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type (disorder)

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Introduction

Rare syndrome with the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay.

Clinical Trials associated with Young Simpson Syndrome

NCT03251014

/ CompletedNot ApplicableIIT

The Thrombotic Effects of Yellowstripe Scad (YSS) Compared to Salmon Among Healthy Overweight Subjects: A Randomized Cross Over Trial

The study aimed to determine the thrombotic effects of YSS compared with salmon among healthy overweight subjects. It hypothesized that YSS may result significant, favorable thrombotic effects and the effects may be similar with salmon.

Start Date01 Oct 2016

Sponsor / Collaborator

Universiti Putra Malaysia

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100 Clinical Results associated with Young Simpson Syndrome

100 Translational Medicine associated with Young Simpson Syndrome

0 Patents (Medical) associated with Young Simpson Syndrome

Literatures (Medical) associated with Young Simpson Syndrome

01 Jun 2025·Poultry Science

Research note: Reference genes selection for gene expression analyses in reproductive turkey (Meleagris gallopavo) with yellow semen syndrome

Article

Author: Liszewska, Ewa ; Drzewiecka, Ewa M ; Ciereszko, Andrzej ; Kozłowski, Krzysztof ; Słowińska, Mariola

Molecular biology techniques, including qPCR, are reliable, powerful, and commonly used tools for diagnostic purposes. qPCR might be useful for determining the etiology of yellow semen syndrome (YSS), an endemic condition in the turkey population, leading to decreased reproductive potential of this species. The current study aimed to evaluate the most accurate qPCR internal controls that might be used as first-choice-reference genes in studies on the reproductive tract, liver, and immune tissues and cells of adult male turkey breeders. RNA was isolated from testis, epididymis, ductus deferens, liver, thymus, bursa of Fabricius, spleen, whole blood, and peripheral blood mononuclear cells (PBMC) from healthy adult individuals producing white semen (WS, n = 6) and with yellow semen syndrome (YSS, n = 6). The expression of seven commonly used housekeeping genes, i.e., glyceraldehyde-3-phosphate dehydrogenase (GAPDH), actin beta (ACTB), phosphoglycerate kinase (PGK1), 60S ribosomal protein L13 (RPL13),ribosomal protein L19 (RPL19), transferrin receptor protein (TFRC), and vimentin (VIM) was tested with qPCR followed by computational calculation of these genes' expression stability in selected tissues/cells. For YSS studies we recommend using ACTB/GAPDH gene pair as a reference for male reproductive organs i.e. testis, epididymis, and ductus deferens as well as in the liver, RPL13/RPL19 for central immune organs, i.e. bursa of Fabricius and thymus, and RPL13/VIM, ACTB/RPL19, and PGK1/RPL19 in the spleen, whole blood, and PBMC research, respectively. A careful investigation of the stability of these genes in each following experiment is required to maintain high-accuracy results. Our results may help optimize protocols for better investigation of molecular mechanisms in physiological and pathological conditions in male turkey breeders for further improving commercial flock welfare and livestock production, and are a prerequisite for future studies determining YSS etiology.

01 Mar 2025·iScience

KAT6B overexpression in mice causes aggression, anxiety, and epilepsy

Article

Author: Rajasekhar, Pradeep ; Ozturk, Ezgi ; Garnham, Alexandra L ; Vogel, Adam P ; Bergamasco, Maria I ; Vanyai, Hannah K ; Jones, Nigel C ; Smyth, Gordon K ; Voss, Anne K ; Hannan, Anthony J ; Abeysekera, Waruni ; Rogers, Kelly ; Whitehead, Lachlan ; Wimmer, Verena C ; Casillas-Espinosa, Pablo M ; Thomas, Tim ; Blewitt, Marnie E

Loss of the gene encoding the histone acetyltransferase KAT6B (MYST4/MORF/QKF) causes developmental brain abnormalities as well as behavioral and cognitive defects in mice. In humans, heterozygous variants in the KAT6B gene cause two cognitive disorders, Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS; OMIM:603736) and genitopatellar syndrome (GTPTS; OMIM:606170). Although the effects of KAT6B homozygous and heterozygous mutations have been documented in humans and mice, KAT6B gain-of-function effects have not been reported. Here, we show that overexpression of the Kat6b gene in mice caused aggression, anxiety, and spontaneous epilepsy. Kat6b overexpression led to an increase in histone H3 lysine 9 acetylation and upregulation of genes driving nervous system development and neuronal differentiation. Kat6b overexpression additionally promoted neural stem cell proliferation and favored neuronal over astrocyte differentiation in vivo and in vitro. Our results suggest that, in addition to loss-of-function alleles, gain-of-function KAT6B alleles may be detrimental for brain development.

23 Sep 2024·Cureus

Genitopatellar Syndrome With a Novel Variant in the KAT6B Gene: Supporting Spectrum Delineation

Article

Author: Mahfooz, Naeem ; Mierzwa, Adam ; Back, Warren

Genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) are rare genetic disorders linked to mutations in the Lysine Acetyltransferase 6B (KAT6B) gene, affecting histone acetylation regulation and developmental processes. We present a case of an African American infant with classic GPS features and a novel KAT6B gene mutation (c.4066del, p.Glu1356Argfs*23). The patient exhibited skeletal anomalies, neurologic deficits, and genitourinary abnormalities, consistent with GPS. Genetic analysis revealed a de novo heterozygous pathogenic variant, adding to the growing understanding of KAT6B-related disorders. Reviewing recent literature, we found an increased prevalence of reported cases and novel gene variants, supporting the delineation of GPS and SBBYSS. Furthermore, analysis suggests a preference range within the gene associated with GPS phenotypes, challenging the notion of a spectrum of KAT6B-related disorders. As genetic sequencing advances, continued reporting of cases will inform decisions regarding the classification of these disorders.

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Young Simpson Syndrome

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