Genitopatellar Syndrome

Last update 23 Jan 2025

Basic Info

Synonyms

ABSENT PATELLAE, SCROTAL HYPOPLASIA, RENAL ANOMALIES, FACIAL DYSMORPHISM, AND MENTAL RETARDATION, Absent Patellae, Scrotal Hypoplasia, Renal Anomalies, Facial Dysmorphism, and Mental Retardation, Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome

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Introduction

Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.

100 Clinical Results associated with Genitopatellar Syndrome

100 Translational Medicine associated with Genitopatellar Syndrome

0 Patents (Medical) associated with Genitopatellar Syndrome

Literatures (Medical) associated with Genitopatellar Syndrome

01 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.

01 Dec 2023·Molecular Genetics & Genomic Medicine

Clinical heterogeneity of polish patients with KAT6B–related disorder

Article

Author: Jurkiewicz, Dorota ; Rydzanicz, Małgorzata ; Ploski, Rafal ; Krajewska-Walasek, Malgorzata ; Jezela-Stanek, Aleksandra ; Zubkiewicz-Kucharska, Agnieszka ; Latos-Bielenska, Anna ; Klaniewska, Magdalena ; Pelc, Magdalena ; Ciara, Elzbieta ; Bolanowska-Tyszko, Anna ; Szczaluba, Krzysztof ; Stawinski, Piotr ; Smigiel, Robert

AbstractBackgroundSay‐Barber‐Biesecker‐Young‐Simpson (SBBYSS) variant of Ohdo syndrome is a rare, autosomal dominant and clinically heterogenous disorder, caused by pathogenic variants in the KAT6B gene located on chromosome 10q22.2. KAT6B encodes a highly conserved histone acetyltransferase belonging to the MYST family. Currently, diseases caused by pathogenic variants in KAT6B (KAT6B‐related disorders) comprise two allelic entities: SBBYSS variant of Ohdo syndrome and genitopatellar syndrome (GPS). Increase in the number of cases with overlapping GPS/SBBYSS phenotype which makes it necessary to redefine this group of phenotypes as KAT6B‐related disorders or KAT6B spectrum disorders.Individuals with SBBYSS usually present with facial abnormalities, hypotonia, joint laxity, feeding problems, and long thumbs/great toes. This syndrome also typically involves skeletal problems including patellar hypoplasia/agenesis.MethodsHere we report six SBBYS syndrome patients with the same dysmorphic features but a different course of the disease. One known and five novel KATB6 pathogenic variants were identified by molecular diagnostics using Next Generation Sequencing (NGS).ResultsWe present a detailed phenotypic analysis of six individuals with KAT6B‐related disorders, in whom a heterozygous pathogenic variant in KAT6B gene was found. In all of our patients facial dysmorphism as well as developmental and speech delay were present. Additionally, all but one patients presented with hypotonia, ocular abnormalities and long thumbs. Most of our probands showed blepharophimosis and skeletal (mainly knee) defects. Contrary to previously reported severe patellar defects (hypoplasia/agenesis) anomalies presented by our patients were less severe (dysplasia, habitual dislocation, subluxation) referring to KAT6B‐related disorders.ConclusionWhile most of the anomalies found in our patients comply with SBBYSS criteria, phenotypic differences in our probands support a broader spectrum of the disease phenotype. To establish the range of this spectrum, a detailed analysis of clinical variability among patients with SBBYSS requires further investigation.

01 Jan 2022·Molecular Syndromology

Delineation of a Phenotype Caused by a KAT6B Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes

Author: Murakami, Hiroaki ; Ikeda, Azusa ; Enomoto, Yumi ; Kumaki, Tatsuro ; Nishimura, Naoto ; Goto, Tomohide ; Kurosawa, Kenji

Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and genitopatellar syndrome (GPS) are caused by variants of lysine acetyltransferase 6B (KAT6B). These variants tend to occur in the terminal exons of KAT6B. Here, we report a patient with global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, facial dysmorphism, and seizures caused by a novel missense variant in exon 7 of KAT6B. The patient showed a phenotype differing from those of SBBYSS and GPS. We also report patients with missense variants in the proximal exons of KAT6B showing dysmorphic features and autistic behavior not resembling the characteristics of SBBYSS and GPS. Missense variants in the proximal exons of KAT6B may have a dominant negative effect or cause gain of function, leading to unique phenotypes not resembling those of SBBYSS and GPS.

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Genitopatellar Syndrome

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