Primrose Syndrome

Primrose 综合征

更新于：2025-05-07

基本信息

别名

Intellectual disability, cataract, calcified pinna, myopathy syndrome、Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)、Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

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简介

A rare genetic intellectual disability syndrome with characteristics of macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair and tall stature. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include hypothyroidism, cerebral calcification, ataxia and peripheral neuropathy. There is evidence this disease is caused by heterozygous mutation in the ZBTB20 gene on chromosome 3q13.

关联

项与 Primrose 综合征相关的临床试验

NL-OMON38472

/ CompletedN/AIIT

Molecular basis of Primrose syndrome - Molecular basis of Primrose syndrome

开始日期2013-09-10

申办/合作机构-

100 项与 Primrose 综合征相关的临床结果

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100 项与 Primrose 综合征相关的转化医学

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0 项与 Primrose 综合征相关的专利（医药）

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项与 Primrose 综合征相关的文献（医药）

2024-08-01·American Journal of Medical Genetics Part A

Resolution of severe neurobehavioral difficulties in an individual with Primrose syndrome with sertraline

Article

作者: Smith-Hicks, Constance ; Hauptman, Aaron ; Moon, Young Min ; Park, Sa Eun

AbstractPrimrose syndrome (PS) is a rare genetic disease characterized by developmental delay, intellectual disability, sensorineural hearing loss, and dysmorphic features. PS is caused by de novo pathogenic variants in the ZBTB20 gene, which encodes a transcription factor modulating neurogenesis. We describe resolution with sertraline of neurobehavioral difficulties in a 17‐year‐old Hispanic male with PS with de novo heterozygous c.1916G > A (p.C639Y) variant of ZBTB20. Neurobehavioral difficulties included aggression towards self and others, irritability, tearfulness, and mood liability that did not respond to behavioral interventions or aripiprazole. Treatment with sertraline, a medication indicated for psychiatric disorders including anxiety and depression, led to the resolution of neurobehavioral difficulties after 2 weeks of initiation of medication. The treatment course suggests that selective serotonin reuptake inhibitors, such as sertraline, may be a useful tool for neurobehavioral difficulties in PS over antipsychotics that are accompanied by complex side effect profiles, and suggest that anxiety is the primary cause of the neurobehavioral difficulties in this patient.

2024-02-01·Journal of Ultrasound in Medicine

Prenatal Diagnosis of Primrose Syndrome

作者: Spaggiari, Emmanuel ; Brisset, Sophie ; Quibel, Thibault ; Dard, Rodolphe ; Bault, Jean Philippe ; Attié Bitach, Tania ; Abdallah, Wael

Primrose syndrome is a very rare congenital malformation. Symptoms of this disorder may appear during childhood, but the diagnosis is identified in adulthood in the majority of cases. The prenatal diagnosis of Primrose syndrome is not developed in the literature. We present herein a case series of 3 cases with characteristic sonographic features. A dysmorphic metopic suture, downslanting palpebral fissures, a wide forehead, and agenesis of corpus callosum are the main signs. A missense mutation in ZBTB20 identified in whole exome sequencing can confirm the prenatal diagnosis of Primrose syndrome.

2024-01-01·Molecular Syndromology

A Novel ZBTB20 Variant in a Patient with Primrose Syndrome: A Rare Clinical Entity with Distinctive Features

Article

作者: Utine, Gülen Eda ; Soğukpınar, Merve ; Karaosmanoğlu, Beren ; Boduroğlu, Koray ; Şimşek-Kiper, Pelin Özlem

Introduction: Primrose syndrome (PS; MIM #259050) is a rare autosomal dominant genetic condition characterized by macrocephaly with or without tall stature, hypotonia, moderate to severe intellectual disability (ID) with delay in expressive speech development, behavioral abnormalities, and a recognizable facial phenotype including deep set eyes, ptosis, narrow and frequently downslanting palpebral fissures, and depressed nasal bridge. PS is caused by a heterozygous pathogenic variant in ZBTB20 (MIM #606025) on chromosome 3q13. Among other characteristic findings are ocular abnormalities, hearing loss, calcification of the external ear cartilage, nonspecific brain magnetic resonance imaging findings, and cryptorchidism. Adults may exhibit joint contractures, distal muscle wasting, sparse body hair, cataract, and disturbed glucose metabolism as well. The majority of affected individuals have typically been adults until recently since the phenotype becomes more recognizable in time. Case Presentation: In this study, we report on a 14-month-old girl who presented with neurodevelopmental findings, facial features, and hearing loss. The glucose metabolism was normal, and muscle atrophy, joint contractures, and external ear cartilage calcification were yet hitherto not evident. A novel de novo missense variant in ZBTB20 was identified with the aid of exome sequencing. Conclusion: PS is a rare clinical entity with various recognizable features, yet the phenotype may be indistinguishable from other neurodevelopmental disorders. Exome sequencing is a useful diagnostic tool especially in patients with no specific diagnosis despite detailed examinations and imaging studies.

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