We report a young patient with phenotypic, cognitive and behavioural features consistent with a diagnosis of Lujan-Fryns syndrome. He exhibited a severe eating disorder with food refusal and psychogenic loss of appetite, which led to a serious state of malnutrition. Behavioural difficulties including shyness, hyperactivity and emotional instability are present in almost 80% of the described patients with Lujan-Fryns syndrome but eating disorders have not been previously reported in this condition. A review of the behavioural problems in Lujan-Fryns syndrome and an approach to their management is discussed.
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MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability.
Am J Med Genet A
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Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Article Synopsis
- * Various MED12-related disorders show distinct patterns based on gender, affecting males and females differently, and involve conditions like Opitz-Kaveggia syndrome and Hardikar syndrome.
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Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
Am J Med Genet A
January 2023
Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The phenotypic spectrum is very broad ranging from nonspecific intellectual disability (ID) to the three well-known syndromes: Opitz-Kaveggia syndrome, Lujan-Fryns syndrome, or Ohdo syndrome. The identified variants were randomly distributed throughout the gene (p = 0.
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Ophthalmic Genet
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Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, Virginia, USA.
Background: -related disorders are a rare group of intellectual disability syndromes with a broad range of phenotypic characteristics. The phenotypic spectrum of -related disorders currently includes X-Linked Ohdo Syndrome, Lujan-Fryns Syndrome (LS), and FG syndrome type 1 (FG), also known as Opitz-Kaveggia Syndrome. The gene encodes the largest component of the mediator complex of RNA polymerase II, which is critical for recruiting activators and repressors to regulate the transcription of genes critical to growth, development, and differentiation.
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Genes (Basel)
August 2021
AMES-Centro Polidiagnostico Strumentale, Srl, 80013 Naples, Italy.
X-linked intellectual deficiency (XLID) is a widely heterogeneous group of genetic disorders that involves more than 100 genes. The mediator of RNA polymerase II subunit 12 (MED12) is involved in the regulation of the majority of RNA polymerase II-dependent genes and has been shown to cause several forms of XLID, including Opitz-Kaveggia syndrome also known as FG syndrome (MIM #305450), Lujan-Fryns syndrome (MIM #309520) and the X-linked Ohdo syndrome (MIM #300895). Here, we report on two first cousins with X-linked Ohdo syndrome with a missense mutation in gene, identified through whole exome sequencing.
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