Mosaicism for del(17) (p11.2p11.2) underlying the Smith‐Magenis syndrome

Juyal, Ramesh C.; Kuwano, Atsutoshi; Kondo, Ikuko; Zara, Federico; Baldini, Antonio; Patel, Pragna I.

doi:10.1002/(sici)1096-8628(19961211)66:2<193::aid-ajmg13>3.3.co;2-9

Cited by 8 publications

(7 citation statements)

References 7 publications

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“…A comprehensive literature review was performed to include as many patients in our analysis as possible. In addition to research patients, patients with clinical and molecular data published prior to 2006 were included in this cohort (Table 1) (1–4, 6–9, 11, 15, 20, 23, 24, 28, 31, 34, 37, 40, 42). Additional inclusion criteria required a known patient number or identifier or confirmation that data for the patient in question were used only once in our study.…”

Section: Methodsmentioning

confidence: 99%

“…Over the years, patients with a broad range of clinical features have been reported (1–11, 13–47). Individuals with SMS may have distinctive craniofacial features including brachycephaly, a broad face, frontal bossing, synophrys, hypertelorism, upslanting eyes, midface hypoplasia with a depressed nasal bridge, a tented upper lip, prognathism, and low‐set or abnormally shaped ears (Figs 1 and 2) (1, 15).…”

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confidence: 99%

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Gender, genotype, and phenotype differences in Smith–Magenis syndrome: a meta‐analysis of 105 cases

et al. 2007

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Smith-Magenis syndrome (SMS) is a multisystem disorder characterized by developmental delay and mental retardation, a distinctive behavioral phenotype, and sleep disturbance. We undertook a comprehensive meta-analysis to identify genotype-phenotype relationships to further understand the clinical variability and genetic factors involved in SMS. Clinical and molecular information on 105 patients with SMS was obtained through research protocols and a review of the literature and analyzed using Fisher's exact test with two-tailed p values. Several differences in these groups of patients were identified based on genotype and gender. Patients with RAI1 mutation were more likely to exhibit overeating, obesity, polyembolokoilamania, self-hugging, muscle cramping, and dry skin and less likely to have short stature, hearing loss, frequent ear infections, and heart defects when compared with patients with deletion, while a subset of small deletion cases with deletions spanning from TNFRSF13B to MFAP4 was less likely to exhibit brachycephaly, dental anomalies, iris abnormalities, head-banging, and hyperactivity. Significant differences between genders were also identified, with females more likely to have myopia, eating/appetite problems, cold hands and feet, and frustration with communication when compared with males. These results confirm previous findings and identify new genotype-phenotype associations including differences in the frequency of short stature, hearing loss, ear infections, obesity, overeating, heart defects, self-injury, self-hugging, dry skin, seizures, and hyperactivity among others based on genotype. Additional studies are required to further explore the relationships between genotype and phenotype and any potential discrepancies in health care and parental attitudes toward males and females with SMS.

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Section: Methodsmentioning

confidence: 99%

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confidence: 99%

Gender, genotype, and phenotype differences in Smith–Magenis syndrome: a meta‐analysis of 105 cases

et al. 2007

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“…There are few reports of mosaic transmission where a parent harbored a low-level mosaic SMS deletion, yet the child was nonmosaic and expressed the common SMS phenotype. [37][38][39] To our knowledge, no constitutional SMS transmission has been reported; however, due to possibility of somatic mosaicism and/or chromosomal rearrangements, parental studies are recommended. 39 Patients should be referred to medical genetics, regardless of the chromosomal basis of SMS, for further counseling and recurrence risk discussion.…”

Section: Recommendations and Management For Sms Patientsmentioning

confidence: 98%

Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith–Magenis and Potocki–Lupski Syndromes

Neira‐Fresneda

Potocki

2015

J Pediatr Genet

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Smith-Magenis syndrome (SMS) and Potocki-Lupski syndrome (PTLS) are reciprocal contiguous gene syndromes within the well-characterized 17p11.2 region. Approximately 3.6 Mb microduplication of 17p11.2, known as PTLS, represents the mechanistically predicted homologous recombination reciprocal of the SMS microdeletion, both resulting in multiple congenital anomalies. Mouse model studies have revealed that the retinoic acid-inducible 1 gene (RAI1) within the SMS and PTLS critical genomic interval is the dosage-sensitive gene responsible for the major phenotypic features in these disorders. Even though PTLS and SMS share the same genomic region, clinical manifestations and behavioral issues are distinct and in fact some mirror traits may be on opposite ends of a given phenotypic spectrum. We describe the neurobehavioral phenotypes of SMS and PTLS patients during different life phases as well as clinical guidelines for diagnosis and a multidisciplinary approach once diagnosis is confirmed by array comparative genomic hybridization or RAI1 gene sequencing. The main goal is to increase awareness of these rare disorders because an earlier diagnosis will lead to more timely developmental intervention and medical management which will improve clinical outcome.

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“…Evidence from the study of genomic disorders does show that NAHR can occur mitotically. In numerous cases, somatic mosaicism for duplication-mediated rearrangements has been identified (67,77,145). There is also evidence suggesting that NAHR plays a significant role in loss of heterozygosity, chromosomal instability, and amplifications in tumorigenesis (16,114,117,137).…”

Section: Somatic Variationmentioning

confidence: 99%

Structural Variation of the Human Genome

Sharp

Cheng

Eichler

2006

Annu. Rev. Genom. Hum. Genet.

269

202

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There is growing appreciation that the human genome contains significant numbers of structural rearrangements, such as insertions, deletions, inversions, and large tandem repeats. Recent studies have defined approximately 5% of the human genome as structurally variant in the normal population, involving more than 800 independent genes. We present a detailed review of the various structural rearrangements identified to date in humans, with particular reference to their influence on human phenotypic variation. Our current knowledge of the extent of human structural variation shows that the human genome is a highly dynamic structure that shows significant large-scale variation from the currently published genome reference sequence.

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Mosaicism for del(17) (p11.2p11.2) underlying the Smith‐Magenis syndrome

Cited by 8 publications

References 7 publications

Gender, genotype, and phenotype differences in Smith–Magenis syndrome: a meta‐analysis of 105 cases

Gender, genotype, and phenotype differences in Smith–Magenis syndrome: a meta‐analysis of 105 cases

Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith–Magenis and Potocki–Lupski Syndromes

Structural Variation of the Human Genome

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