Embryonal rhabdomyosarcoma and chromosomal breakage in a newborn infant with possible Dubowitz syndrome

Alnemri, Abdul Rahman; Kilani, Ramzi A; Salih, Mustafa A.; Al-Ajlan, Abdul Aziz

doi:10.1002/(sici)1096-8628(20000515)92:2<107::aid-ajmg5>3.0.co;2-l

Cited by 19 publications

(21 citation statements)

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“…Dubowitz syndrome is a highly variable clinical diagnosis characterized by the association of multiple congenital anomalies including distinctive facial features, intellectual disability, microcephaly, and eczema (Tsukahara & Opitz, 1996). Hematologic and immune system complications, as well as increased risk for malignancy have been reported (Al-Nemri, Kilani Salih, & Al-Ajlan, 2000; Gröbe, 1983; Sauer & Spelger, 1977). Some have argued that the clinical entity identified in the literature as “Dubowitz syndrome” is in fact a set of several overlapping disorders with different molecular etiologies (Stewart et al, 2014).…”

Section: | Discussionmentioning

confidence: 99%

PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature

Park¹,

Seltzer

Tuttle

et al. 2017

American J of Med Genetics Pt A

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Developmental encephalopathies constitute a broad and genetically heterogeneous spectrum of disorders associated with global developmental delay, intellectual disability, frequent epilepsy, and other neurofunctional abnormalities. Here, we report a male presenting with infantile onset epilepsy and syndromic features resembling Dubowitz syndrome identified to have a de novo PLXNA1 variant by whole exome sequencing. This constitutes the second report of PLXNA1 sequence variation associated with early onset epilepsy, and the first to expand on the clinical features of this emerging disorder. This reports suggests that nonsynonymous de novo sequence variations in PLXNA1 are associated with a novel human phenotype characterized by intractable early onset epilepsy, intellectual disability, and syndromic features.

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Section: | Discussionmentioning

confidence: 99%

PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature

Park¹,

Seltzer

Tuttle

et al. 2017

American J of Med Genetics Pt A

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“…1 2 Although first reported in 1965 by Dubowitz as a condition characterised by familial low birthweight, dwarfism with unusual facies and skin eruption, 3 the phenotypic spectrum has been expanded to include a wide variety of less frequent features such as congenital heart defects, frequent infections and chromosomal instability. 4 DS is distinguished from other blepharophimosismental retardation syndromes such as Say-Barber-Biesecker variant of Ohdo syndrome, 2 recently linked to mutations in the KAT6B gene encoding a histone acetyltransferase. 5 To date, there are approximately 140 DS reported cases with no causative mutations identified.…”

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confidence: 99%

Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome

et al. 2012

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Dubowitz Syndrome is an autosomal recessive disorder characterized by the constellation of mild microcephaly, growth and mental retardation, eczema and peculiar facies, but causes are still unknown. We studied a multiplex consanguineous family with many features of Dubowitz syndrome using whole exome sequencing and identified a splice mutation in NSUN2, encoding a conserved RNA methyltransferase. NSUN2 has been implicated in Myc-induced cell proliferation and mitotic spindle stability, which might help explain the varied clinical presentations that can include chromosomal instability and immunological defects. Patient cells displayed loss of NSUN2-specific methylation at two residues of the aspartate tRNA. Our findings establish NSUN2 as the first causal gene with relationship to the Dubowitz syndrome spectrum phenotype.

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“…Medical concerns with the hematology, immunology, and malignancies include aplastic anemia, actute lymphatic leukemia, malignant lymphoma, germinal blastic sarcoma, neuroblastoma, pancytopenia, embryonal rhabdomyosarcoma, hypogammaglobulinmia, hypoplastic anemia, and bone marrow hypoplasia [4-6, 12, 13, 25]. These have occurred very rarely in cases with Dubowitz syndrome.…”

Section: Description Of Disordermentioning

confidence: 99%

“…Certain medical problems are associated with the condition [6-10]. Dubowitz syndrome commonly leads to decreased motor and language functioning [5], developmental delay [3], and an increased risk for a shorter life span [4, 6, 13]. …”

Section: Introductionmentioning

confidence: 99%

“…The syndrome was later identified and named by Grosse [2] and Opitz [11]. The cause of Dubowitz syndrome remains unknown, however, literature points to genetics and chromosomal instability [3, 12, 13]. Sporadic cases suggest growth hormone deficiency [14] or defects in the cholesterol biosynthetic pathway [15] as the source of the disorder.…”

Section: Introductionmentioning

confidence: 99%

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Dubowitz Syndrome: A Review and Implications for Cognitive, Behavioral, and Psychological Features

2011

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Dubowitz syndrome is a rare autosomal recessive disorder characterized by micorcephaly, short stature, abnormal faces, and mild to severe mental retardation. Growth retardation occurs both intrauterine and postnatal. Behavioral characteristics include hyperactivity, short attention span, and aggressiveness. Behavior problems include difficulty feeding, sleep disturbance, and bedwetting. Individuals with the disorder have displayed shyness, fear of crowds, and dislike of loud noises. A high-pitched or hoarse voice is common. Deficits have been found in speech and language skills, reasoning and memory skills, self-help skills, and psychomotor functioning. Ocular, dental, cutaneous, skeletal, cardiovascular, gastrointestinal, neurological, immunological, and hematological medical difficulties have been noted. Approximately 148 cases have been described in the literature. The cause of the disorder remains unknown, however, research suggests genetic origin. Past research emphasizes physical characteristics and medical complications. There is a lack of cognitive, behavioral, and psychological information available regarding the disorder. This article presents a review of the literature and provides assessment and treatment implications for the cognitive, behavioral, and psychological aspects of Dubowitz syndrome.KeywordsDubowitz; Syndrome; Autosomal; Recessive

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Embryonal rhabdomyosarcoma and chromosomal breakage in a newborn infant with possible Dubowitz syndrome

Cited by 19 publications

References 5 publications

PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature

PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature

Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome

Dubowitz Syndrome: A Review and Implications for Cognitive, Behavioral, and Psychological Features

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