Early development of occipital horns in a classical Menkes patient

Gérard-Blanluet, Marion; Møller, Lisbeth Birk; Horn, Nina; Caubel, Isabelle; Gélot, A.; Villemeur, Thierry Billette de

doi:10.1002/ajmg.a.30155

Cited by 14 publications

(6 citation statements)

References 8 publications

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“…In Proband 5, a girl with Menkes disease, the BCT disrupted the ATP7A gene. ATP7A variants cause X-linked recessive (XLR) Menkes disease, occipital horn syndrome and spinal muscular atrophy [39][40][41][42]. Typically, XLR diseases are present only in male patients, while the our proband is female.…”

Section: Discussionmentioning

confidence: 99%

Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype

Pienkowski

Kucharczyk

Rydzanicz

et al. 2020

JCM

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De novo balanced chromosomal aberrations (BCAs), such as reciprocal translocations and inversions, are genomic aberrations that, in approximately 25% of cases, affect the human phenotype. Delineation of the exact structure of BCAs may provide a precise diagnosis and/or point to new disease loci. We report on six patients with de novo balanced chromosomal translocations (BCTs) and one patient with a de novo inversion, in whom we mapped breakpoints to a resolution of 1 bp, using shallow whole-genome mate pair sequencing. In all seven cases, a disruption of at least one gene was found. In two patients, the phenotypic impact of the disrupted genes is well known (NFIA, ATP7A). In five patients, the aberration damaged genes: PARD3, EPHA6, KLF13, STK24, UBR3, MLLT10 and TLE3, whose influence on the human phenotype is poorly understood. In particular, our results suggest novel candidate genes for retinal degeneration with anophthalmia (EPHA6), developmental delay with speech impairment (KLF13), and developmental delay with brain dysembryoplastic neuroepithelial tumor (UBR3). In conclusion, identification of the exact structure of symptomatic BCTs using next generation sequencing is a viable method for both diagnosis and finding novel disease candidate genes in humans.

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Section: Discussionmentioning

confidence: 99%

Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype

Pienkowski

Kucharczyk

Rydzanicz

et al. 2020

JCM

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show abstract

“…Our patient had a dry lax skin, coarse hair and Skeletal alterations like the presence of the pathognomonic occipital exostoses ("horns") that give the name to this entity are typical. They correspond to the tendinous insertions of the trapezius and sternocleidomastoid muscles in the occipital bone, probably resulting from an inflammatory reaction to chronic injury [6].…”

Section: Discussionmentioning

confidence: 99%

Occipital Horn Syndrome Case Report: Multidisciplinary Approach of a Rare Entity

et al. 2018

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We report the case of an 8-year-old boy with delayed psychomotor development, dysarthria, choreoathetosis, joint mild hyperlaxity, coarse hair, dry lax skin and facial dimorphisms. Cerebral magnetic resonance revealed diffuse vascular tortuosity, with multiple loops in some arteries of Willis' circle. Clinical presentation, corroborated by the imagiological findings, raised the suspicion of a disorder of copper metabolism. Serum copper and ceruloplasmin were decreased and lateral skull X-rays demonstrated bilateral occipital exostoses. ATP7A gene sequencing identified a hemizygous variant c.375delA (p.Ala126Glnfs*2), confirming the diagnosis of occipital horn syndrome. Occipital horn syndrome (also called X-linked cutis laxa) is a milder form of Menkes disease. This rare disorder of copper metabolism results from mutations in ATP7A gene encoding a transmembrane copper-transporting enzyme. The broad spectrum of clinical presentation makes the diagnosis challenging. This case illustrates the importance of a multidisciplinary approach, highlighting the role of neuroimaging.

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“…OHS, also known as Ehlers-Danlos syndrome type IX or X-linked cutis laxa, is an X-linked recessive disorder mostly observed in males, with symptoms usually appearing at 3 to 10 years of age. 203,256,257 OHS is characterized by a wedge-shaped, protruded calcification at the occipital bone 258 and is often diagnosed on the basis of connective tissue malfunction that results in unusually long facial features, mild hypotonia, and neurological symptoms. 257 Patients with OHS usually have normal intellectual functions but present skin laxity, inguinal hernia, bladder diverticula, and hypermobile joints.…”

Section: Occipital Horn Syndromementioning

confidence: 99%

The molecular and cellular basis of copper dysregulation and its relationship with human pathologies

et al. 2021

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Copper (Cu) is an essential micronutrient required for the activity of redox-active enzymes involved in critical metabolic reactions, signaling pathways, and biological functions. Transporters and chaperones control Cu ion levels and bioavailability to ensure proper subcellular and systemic Cu distribution. Intensive research has focused on understanding how mammalian cells maintain Cu homeostasis, and how molecular signals coordinate Cu acquisition and storage within organs. In humans, mutations of genes that regulate Cu homeostasis or facilitate interactions with Cu ions lead to numerous pathologic conditions. Malfunctions of the Cu + -transporting ATPases ATP7A and ATP7B cause Menkes disease and Wilson disease, respectively. Additionally, defects in the mitochondrial and cellular distributions and homeostasis of Cu lead to severe neurodegenerative conditions, mitochondrial myopathies, and metabolic diseases. Cu has a dual nature in K E Y W O R D S cancer, copper, copper-dependent diseases, cuproproteins, Menkes disease, mitochondrial myopathies, Wilson disease

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Early development of occipital horns in a classical Menkes patient

Cited by 14 publications

References 8 publications

Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype

Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype

Occipital Horn Syndrome Case Report: Multidisciplinary Approach of a Rare Entity

The molecular and cellular basis of copper dysregulation and its relationship with human pathologies

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