Dataset Information

Jacobsen Syndrome: Surgical Complications due to Unsuspected Diagnosis, the Importance of Molecular Studies in Patients with Craniosynostosis.

ABSTRACT: Jacobsen syndrome (JBS) is an uncommon contiguous gene syndrome. About 85-92% of cases have a de novo origin. Clinical variability and severity probably depend on the size of the affected region. The typical clinical features in JBS include intellectual disability, growth retardation, craniofacial dysmorphism as well as craniosynostosis, congenital heart disease, and platelet abnormalities. The proband was a 1 year/3-month-old Mexican male. Oligonucleotide-SNP array analysis using the GeneChip Human Cytoscan HD was carried out for the patient from genomic DNA. The SNP array showed a 14.2-Mb deletion in chromosome 11q23.3q25 (120,706-134,938 Mb), which involved 163 RefSeq genes in the database of genomic variation. We report a novel deletion in JBS that increases the knowledge of the variability in the mutation sites in this region and expands the spectrum of molecular and clinical defects in this syndrome.

SUBMITTER: Linares Chavez EP

PROVIDER: S-EPMC4772712 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature

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Jacobsen Syndrome: Surgical Complications due to Unsuspected Diagnosis, the Importance of Molecular Studies in Patients with Craniosynostosis.

Linares Chávez Etzalli P EP Toral López Jaime J Valdés Miranda Juan M JM González Huerta Luz M LM Perez Cabrera Adrian A Del Refugio Rivera Vega María M Messina Baas Olga M OM Cuevas-Covarrubias Sergio A SA

Molecular syndromology 20151218 5

Jacobsen syndrome (JBS) is an uncommon contiguous gene syndrome. About 85-92% of cases have a de novo origin. Clinical variability and severity probably depend on the size of the affected region. The typical clinical features in JBS include intellectual disability, growth retardation, craniofacial dysmorphism as well as craniosynostosis, congenital heart disease, and platelet abnormalities. The proband was a 1 year/3-month-old Mexican male. Oligonucleotide-SNP array analysis using the GeneChip H ...[more]

PMID: 26997943

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Project description:Opinion statement: Purpose of review:Neurologic disease is a common extraglandular manifestation of Sjögren's syndrome (SS), the study of which has been hampered both by the lack of uniform definitions for specific neurologic complications and by the imprecision of the tools used to diagnose SS. There is a great need to develop consensus criteria for classifying these varied neurologic manifestations, as has been done in systemic lupus erythematosus (SLE) "Arthritis and rheumatism 42:599-608, 1999". SS patients with certain forms of neurologic involvement, such as small fiber neuropathy and sensory ataxic ganglionopathy, frequently lack anti-SSA and anti-SSB antibodies and other serologic abnormalities. In these patients, neurologic disease is often their presenting manifestation, triggering a search for underlying SS. Given the frequent seronegativity of such patients, their diagnosis of SS rests heavily on the interpretation of a labial gland biopsy. However, these biopsies are prone to misinterpretation "Vivino etal. J Rheumatol 29:938-44, 2002", and "positive" ones are found in up to 15% of healthy volunteers "Radfar et al. Arthrit Rheumatu 47:520-4, 2002". Better diagnostic tools are needed to determine if the frequent seronegative status of these SS patients may be related to a unique disease pathogenesis. Recent findings:Recent advances in diagnostic techniques have served to define a likely pathogenetic basis for certain neurologic manifestations of SS. The advent of punch skin biopsies to analyze intraepidermal nerve fiber density and morphology has helped define pure sensory small fiber neuropathy as common in SS and the basis for both length- and non-length-dependent patterns of neuropathic pain. New protocols for magnetic resonance imaging (MRI) have enabled the recognition of dorsal root ganglionitis, a finding originally detected in pathologic studies. The advent of the anti-aquaporin-4 (AQP4) antibody test in 2004 has Led to the appreciation that demyelinating disease in SS is often related to the presence of neuromyelitis optica spectrum disorder. The anti-AQP4 antibody is considered to be directly pathogenic in the brain, targeting the primary water channel proteins in the brain, expressed prominently on astrocytic foot processes. Summary:There are no clinical trials evaluating the efficacy of systemic immune suppressive therapy for peripheral or central nervous system involvement. With the recent increase in clinical trials of biologic agents for SS, which utilize systemic disease manifestations as standardized outcome measures, there is an urgency to deveLop appropriate definitions of neuroLogic compLications of SS and cLear parameters for clinical improvement.

Dataset Information

Jacobsen Syndrome: Surgical Complications due to Unsuspected Diagnosis, the Importance of Molecular Studies in Patients with Craniosynostosis.

Publications

Jacobsen Syndrome: Surgical Complications due to Unsuspected Diagnosis, the Importance of Molecular Studies in Patients with Craniosynostosis.

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