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[PMID]: 27795219
[Au] Autor:Alcántara-Montiel JC; Vega-Torres BI
[Ad] Address:Universidad Nacional Autónoma de México, Facultad de Estudios Superiores Zaragoza, Facultad de Medicina. Ciudad de México, México. jcalcantara@comunidad.unam.mx.
[Ti] Title:Síndrome hiper-IgE. Lecciones de la función y defectos de STAT-3 o DOCK-8. [Hyper-IgE syndrome. Lessons from function and defects of STAT-3 or DOCK-8].
[So] Source:Rev Alerg Mex;63(4):385-396, 2016 Oct-Dec.
[Is] ISSN:0002-5151
[Cp] Country of publication:Mexico
[La] Language:SPA
[Ab] Abstract:In the classification of primary immunodeficiencies, hyper-IgE syndrome, identified with OMIM code # 147060 in the Online Mendelian Inheritance in Man catalog, belongs to the group of syndromes associated with combined immunodeficiencies. It is characterized by elevated levels of IgE, eosinophilia, recurrent skin abscesses, pneumonia, lung parenchyma lesions, recurrent infections, rashes in newborns, eczema, sinusitis, otitis, and mucocutaneous candidiasis. Hyper-IgE syndrome can be transmitted by autosomal dominant or autosomal recessive modes of inheritance. Hyper-IgE syndrome in its dominant form includes non-immunological manifestations like characteristic facies, pathological dentition, scoliosis, bone disorders, and joint hyperextensibility. The reported cause of the dominant form is the loss of function of the signal transducer and activator of transcription 3 (STAT-3, with MIM # 102582). Mutations in dedicator of cytokines 8 (DOCK-8) is the most common cause of the autosomal recessive form of hyper-IgE syndrome.
[Pt] Publication type:JOURNAL ARTICLE; ENGLISH ABSTRACT
[Em] Entry month:1610
[Cu] Class update date: 161031
[Lr] Last revision date:161031
[St] Status:In-Data-Review

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Miglino, Maria Angélica
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[PMID]: 27788285
[Au] Autor:Iglesias LP; Favaron PO; Borghesi J; Carreira AC; Miglino MA; de Melo AP
[Ad] Address:Department of Surgery, School of Veterinary Medicine and Animal Science, University of Sao Paulo, Sao Paulo, Sao Paulo, Brazil.
[Ti] Title:Trend Towards Individualisation of the Endocrine and Exocrine Portions of the Giant Anteater Pancreas (Myrmecophaga tridactyla, Xenarthra).
[So] Source:Anat Rec (Hoboken);, 2016 Oct 27.
[Is] ISSN:1932-8494
[Cp] Country of publication:United States
[La] Language:ENG
[Ab] Abstract:Considering the physiological importance of the pancreas as an endocrine and exocrine organ, this study described the characteristics of the gross and microscopic morphology of this organ using 16 Myrmecophaga tridactyla individuals. The pancreas was located in the left antimere of the body, was pale in colour and exhibited an elongated shape with a central body and lobulated surface. It was positioned in the abdomen, following the curvatura ventriculi major of the stomach, and was attached to the initial portion of the duodenum. The corpus pancreatis was elongated and showed a caudal curvature of 45(°) . The pancreas exhibited a facies dorsalis (related to the spleen and stomach) and a facies ventralis (related to the renal capsule and intestine). Macroscopically, a craniodorsal, medial, and caudoventral regions were identified, in addition to the left lobe. Structurally, the organ exhibited two distinct parts: the first had exocrine characteristics, consisting of acini and ducts; the second, which was the endocrine portion, consisted of the pancreatic islets, which were located in the medial, caudoventral and left lobe regions. Ultrastructural analysis identified secretory vesicles containing zymogen granules, mitochondria, Golgi apparatus and rough endoplasmic reticulum in pancreatic centroacinar cells. Morphological data on the anatomy of members of the Xenarthra have revealed important peculiarities of several organs and systems, adding great biological value to the representatives of this group. In addition, these studies significantly contribute not only to knowledge of the biology, taxonomy and, consequently, preservation of these animals but also to the discovery of new experimental models. This article is protected by copyright. All rights reserved.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1610
[Cu] Class update date: 161028
[Lr] Last revision date:161028
[St] Status:Publisher
[do] DOI:10.1002/ar.23508

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[PMID]: 27783985
[Au] Autor:Dimuccio LA; Rodrigues N; Larocca F; Pratas J; Amado AM; de Carvalho LA
[Ad] Address:Centre of Studies on Geography and Spatial Planning (CEGOT), Colégio de S. Jerónimo, University of Coimbra, 3004-530 Coimbra, Portugal; Centro Regionale di Speleologia "Enzo dei Medici", Via Lucania 3, 87070 Roseto Capo Spulico, CS, Italy. Electronic address: luca@ci.uc.pt.
[Ti] Title:Geochemical and mineralogical fingerprints to distinguish the exploited ferruginous mineralisations of Grotta della Monaca (Calabria, Italy).
[So] Source:Spectrochim Acta A Mol Biomol Spectrosc;173:704-720, 2016 Oct 17.
[Is] ISSN:1873-3557
[Cp] Country of publication:England
[La] Language:ENG
[Ab] Abstract:This study examines the geochemical and mineralogical variations in the ferruginous mineralisations that crop out within Grotta della Monaca, which is considered to be the most striking and best known example of a prehistoric iron mine-cave from the southern Apennines (Calabria, Italy). Previous archaeological research identified three local and distinct ancient exploitation phases of these ferruginous mineralisations: (1) an Upper Palaeolithic phase; (2) a Late Neolithic phase; and (3) a post-Medieval phase. These materials, which have various forms of complex mineralogical admixtures and range in colour from yellow-orange to red and darker brown shades, mainly consist of iron oxides/hydroxides (essentially goethite and lepidocrocite), which are often mixed with subordinate and variable amounts of other matrix components (carbonates, sulphates, arsenates, silicates and organic matter). Such ferruginous mineralisations generally correspond to geochemically heterogeneous massive dyke/vein/mammillary/stratiform facies that are exposed within the local caves along open fractures and inclined bedding planes and that partially cover cave wall niches/notches/pockets and ceiling cupolas/holes. Selected samples/sub-samples are analysed through a multi-technique approach with a handheld portable X-ray Fluorescence, X-ray Diffraction, micro-Raman and Fourier Transform Infrared spectroscope (both conventional and attenuated total reflection), which is combined with subsequent multivariate statistical analysis of the elemental concentration data. The geochemical and mineralogical results are used to individualise similar compositional clusters. As expected, the identified groups, each of which has very specific geochemical-mineralogical "fingerprints" and spatial distributions, enable us to identify the sampled ferruginous mineralisations. These specific mineral resources can be compared to similar raw materials that are found in other neighbouring archaeological sites, with obvious implications toward understanding local exploitation strategies through time and the exchanges and kinship networks of these materials.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1610
[Cu] Class update date: 161027
[Lr] Last revision date:161027
[St] Status:Publisher

  4 / 6223 MEDLINE  
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[PMID]: 27246907
[Au] Autor:Kurata H; Terashima H; Nakashima M; Okazaki T; Matsumura W; Ohno K; Saito Y; Maegaki Y; Kubota M; Nanba E; Saitsu H; Matsumoto N; Kato M
[Ad] Address:Division of Child Neurology, Department of Brain, and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan. kurata0708@gmail.com.
[Ti] Title:Characterization of SPATA5-related encephalopathy in early childhood.
[So] Source:Clin Genet;90(5):437-444, 2016 Nov.
[Is] ISSN:1399-0004
[Cp] Country of publication:Denmark
[La] Language:ENG
[Ab] Abstract:Mutations in SPATA5 have recently been shown to result in a phenotype of microcephaly, intellectual disability, seizures, and hearing loss in childhood. Our aim in this report is to delineate the SPATA5 syndrome as a clinical entity, including the facial appearance, neurophysiological, and neuroimaging findings. Using whole-exome sequencing and Sanger sequencing, we identified three children with SPATA5 mutations from two families. Two siblings carried compound heterozygous mutations, c.989_991del (p.Thr330del) and c.2130_2133del (p.Glu711Profs*21), and the third child had c.967T>A (p.Phe323Ile) and c.2146G>C (p.Ala716Pro) mutations. The three patients manifested microcephaly, psychomotor retardation, hypotonus or hypertonus, and bilateral hearing loss from early infancy. Common facies were a depressed nasal bridge/ridge, broad eyebrows, and retrognathia. Epileptic spasms or tonic seizures emerged at 6-12 months of age. Interictal electroencephalography showed multifocal spikes and bursts of asynchronous diffuse spike-wave complexes. Augmented amplitudes of visually evoked potentials were detected in two patients. Magnetic resonance imaging revealed hypomyelination, thin corpus callosum, and progressive cerebral atrophy. Blood copper levels were also elevated or close to the upper normal levels in these children. Clinical delineation of the SPATA5-related encephalopathy should improve diagnosis, facilitating further clinical and molecular investigation.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:2016
[Cu] Class update date: 161026
[Lr] Last revision date:161026
[St] Status:In-Data-Review
[do] DOI:10.1111/cge.12813

  5 / 6223 MEDLINE  
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[PMID]: 26743599
[Au] Autor:Sethi M; Haque S; Fawcett H; Wing JF; Chandler N; Mohammed S; Frayling IM; Norris PG; McGibbon D; Young AR; Sarkany RP; Lehmann AR; Fassihi H
[Ad] Address:King's College London, Kings Health Partners, Division of Genetics and Molecular Medicine, St. John's Institute of Dermatology, Guy's Hospital, London, United Kingdom; National Xeroderma Pigmentosum Service, Department of Photodermatology, St. John's Institute of Dermatology, Guy's and St. Thomas' N
[Ti] Title:A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan.
[So] Source:J Invest Dermatol;136(4):869-72, 2016 Apr.
[Is] ISSN:1523-1747
[Cp] Country of publication:United States
[La] Language:ENG
[Mh] MeSH terms primary: Genotype
Xeroderma Pigmentosum Group A Protein/genetics
Xeroderma Pigmentosum/genetics
[Mh] MeSH terms secundary: Adolescent
Adult
Afghanistan/ethnology
Aged
Child
Child, Preschool
DNA Repair
Facies
Female
Great Britain/epidemiology
Humans
India/ethnology
Male
Middle Aged
Pakistan/ethnology
Phenotype
Xeroderma Pigmentosum/diagnosis
Xeroderma Pigmentosum/ethnology
Young Adult
[Pt] Publication type:LETTER; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (XPA protein, human); 0 (Xeroderma Pigmentosum Group A Protein)
[Em] Entry month:1608
[Cu] Class update date: 161025
[Lr] Last revision date:161025
[Js] Journal subset:IM
[Da] Date of entry for processing:016325
[St] Status:MEDLINE

  6 / 6223 MEDLINE  
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PubMed Central Full text
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[PMID]: 26730956
[Au] Autor:Zheng F; Kasper LH; Bedford DC; Lerach S; Teubner BJ; Brindle PK
[Ad] Address:Department of Biochemistry, St Jude Children's Research Hospital, Memphis, TN 38105, United States of America.
[Ti] Title:Mutation of the CH1 Domain in the Histone Acetyltransferase CREBBP Results in Autism-Relevant Behaviors in Mice.
[So] Source:PLoS One;11(1):e0146366, 2016.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:ENG
[Ab] Abstract:Autism spectrum disorders (ASDs) are a group of neurodevelopmental afflictions characterized by repetitive behaviors, deficits in social interaction, and impaired communication skills. For most ASD patients, the underlying causes are unknown. Genetic mutations have been identified in about 25 percent of ASD cases, including mutations in epigenetic regulators, suggesting that dysregulated chromatin or DNA function is a critical component of ASD. Mutations in the histone acetyltransferase CREB binding protein (CBP, CREBBP) cause Rubinstein-Taybi Syndrome (RTS), a developmental disorder that includes ASD-like symptoms. Recently, genomic studies involving large numbers of ASD patient families have theoretically modeled CBP and its paralog p300 (EP300) as critical hubs in ASD-associated protein and gene interaction networks, and have identified de novo missense mutations in highly conserved residues of the CBP acetyltransferase and CH1 domains. Here we provide animal model evidence that supports this notion that CBP and its CH1 domain are relevant to autism. We show that mice with a deletion mutation in the CBP CH1 (TAZ1) domain (CBPΔCH1/ΔCH1) have an RTS-like phenotype that includes ASD-relevant repetitive behaviors, hyperactivity, social interaction deficits, motor dysfunction, impaired recognition memory, and abnormal synaptic plasticity. Our results therefore indicate that loss of CBP CH1 domain function contributes to RTS, and possibly ASD, and that this domain plays an essential role in normal motor function, cognition and social behavior. Although the key physiological functions affected by ASD-associated mutation of epigenetic regulators have been enigmatic, our findings are consistent with theoretical models involving CBP and p300 in ASD, and with a causative role for recently described ASD-associated CBP mutations.
[Mh] MeSH terms primary: Autistic Disorder/genetics
CREB-Binding Protein/genetics
Histone Acetyltransferases/genetics
Mutation
Rubinstein-Taybi Syndrome/genetics
[Mh] MeSH terms secundary: Analysis of Variance
Animals
Autistic Disorder/enzymology
Autistic Disorder/physiopathology
Binding Sites/genetics
CREB-Binding Protein/metabolism
Craniofacial Abnormalities/genetics
Craniofacial Abnormalities/physiopathology
Hippocampus/metabolism
Hippocampus/physiopathology
Histone Acetyltransferases/metabolism
Humans
Long-Term Potentiation/genetics
Long-Term Potentiation/physiology
Maze Learning/physiology
Memory Disorders/genetics
Memory Disorders/physiopathology
Mice, 129 Strain
Mice, Inbred C57BL
Mice, Knockout
Motor Activity/genetics
Motor Activity/physiology
Phenotype
Rubinstein-Taybi Syndrome/enzymology
Rubinstein-Taybi Syndrome/physiopathology
Social Behavior
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Crebbp protein, mouse); EC 2.3.1.48 (CREB-Binding Protein); EC 2.3.1.48 (Histone Acetyltransferases)
[Em] Entry month:1608
[Cu] Class update date: 161025
[Lr] Last revision date:161025
[Js] Journal subset:IM
[Da] Date of entry for processing:201616
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0146366

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[PMID]: 26701073
[Au] Autor:Pitts CH; Mervis CB
[Ad] Address:C. Holley Pitts and Carolyn B. Mervis, Department of Psychological and Brain Sciences, University of Louisville.
[Ti] Title:Performance on the Kaufman Brief Intelligence Test-2 by Children With Williams Syndrome.
[So] Source:Am J Intellect Dev Disabil;121(1):33-47, 2016 Jan.
[Is] ISSN:1944-7515
[Cp] Country of publication:United States
[La] Language:ENG
[Ab] Abstract:We describe the performance of 292 4- to 17-year-olds with Williams syndrome (WS) on the Kaufman Brief Intelligence Test-2 (KBIT-2; Kaufman & Kaufman, 2004). Mean IQ Composite, Verbal standard score (SS), and Nonverbal SS were in the borderline range relative to the general population, with variability similar to the general population. Correlations between SSs and CA were close to 0, with no significant sex differences. There was a significant effect of maternal education on Verbal SS. The KBIT-2 appropriately captures the full range of performance of 8- to 17-year-olds with WS for the abilities measured and of all but the very lowest-functioning 5- to 7-year-olds. However, the KBIT-2 does not contain easy enough items to adequately assess the abilities of the lowest quartile of 4-year-olds.
[Mh] MeSH terms primary: Intelligence Tests/statistics & numerical data
Intelligence/physiology
Psychometrics/instrumentation
Williams Syndrome/diagnosis
[Mh] MeSH terms secundary: Adolescent
Child
Child, Preschool
Female
Humans
Intelligence Tests/standards
Male
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1603
[Cu] Class update date: 161025
[Lr] Last revision date:161025
[Js] Journal subset:IM
[Da] Date of entry for processing:151224
[St] Status:MEDLINE
[do] DOI:10.1352/1944-7558-121.1.33

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[PMID]: 26566760
[Au] Autor:Faria ÁC; Rabbi-Bortolini E; Rebouças MR; de S Thiago Pereira AL; Frasson MG; Atique R; Lourenço NC; Rosenberg C; Kobayashi GS; Passos-Bueno MR; Errera FI
[Ad] Address:Programa de Graduação em Biotecnologia, Centro de Ciências da Saúde, Universidade Federal do Espírito Santo (UFES), Vitória, Espírito Santo, Brasil.
[Ti] Title:Craniosynostosis in 10q26 deletion patients: A consequence of brain underdevelopment or altered suture biology?
[So] Source:Am J Med Genet A;170A(2):403-9, 2016 Feb.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:ENG
[Ab] Abstract:Approximately a hundred patients with terminal 10q deletions have been described. They present with a wide range of clinical features always accompanied by delayed development, intellectual disability and craniofacial dysmorphisms. Here, we report a girl and a boy with craniosynostosis, developmental delay and other congenital anomalies. Karyotyping and molecular analysis including Multiplex Ligation dependent probe amplification (MLPA) and Array Comparative Genomic Hybridization (aCGH) were performed in both patients. We detected a 13.1 Mb pure deletion at 10q26.12-q26.3 in the girl and a 10.9 Mb pure deletion at 10q26.13-q26.3 in the boy, both encompassing about 100 genes. The clinical and molecular findings in these patients reinforce the importance of the DOCK1 smallest region of overlap I (SRO I), previously suggested to explain the clinical signs, and together with a review of the literature suggest a second 3.5 Mb region important for the phenotype (SRO II). Genotype-phenotype correlations and literature data suggest that the craniosynostosis is not directly related to dysregulated signaling in suture development, but may be secondary to alterations in brain development instead. Further, genes at 10q26 may be involved in the molecular crosstalk between brain and cranial vault.
[Mh] MeSH terms primary: Brain/abnormalities
Chromosome Deletion
Chromosomes, Human, Pair 10/genetics
Craniosynostoses/etiology
Learning Disorders/etiology
Sutures/adverse effects
[Mh] MeSH terms secundary: Adult
Brain/pathology
Comparative Genomic Hybridization
Craniosynostoses/pathology
Facies
Female
Humans
Infant, Newborn
Learning Disorders/pathology
Male
Prognosis
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1610
[Cu] Class update date: 161026
[Lr] Last revision date:161026
[Js] Journal subset:IM
[Da] Date of entry for processing:016125
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.37448

  9 / 6223 MEDLINE  
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[PMID]: 26360873
[Au] Autor:Cung W; Freedman LA; Khan NE; Romberg E; Gardner PJ; Bassim CW; Baldwin AM; Widemann BC; Stewart DR
[Ad] Address:University of Maryland School of Dentistry, Baltimore, MD, USA.
[Ti] Title:Cephalometry in adults and children with neurofibromatosis type 1: Implications for the pathogenesis of sphenoid wing dysplasia and the "NF1 facies".
[So] Source:Eur J Med Genet;58(11):584-90, 2015 Nov.
[Is] ISSN:1878-0849
[Cp] Country of publication:Netherlands
[La] Language:ENG
[Ab] Abstract:BACKGROUND: Neurofibromatosis type 1 (NF1) is a common, autosomal dominant tumor-predisposition disorder that arises secondary to mutations in the tumor suppressor gene NF1. Cephalometry is an inexpensive, readily available and non-invasive technique that is under-utilized in studying the NF1 craniofacial phenotype. An analysis of NF1 cephalometry was first published by Heervä et al. in 2011. We expand here on that first investigation with a larger cohort of adult and pediatric patients affected with NF1 and sought objective insight into the NF1 facies, said to feature hypertelorism and a broad nasal base, from cephalometric analysis. METHODS: We obtained cephalograms from 101 patients with NF1 (78 adults and 23 children) from two NF1 protocols at the National Institutes of Health. Each subject had an age-, gender- and ethnicity-matched control. We used Dolphin software to make the cephalometric measurements. We assessed the normality of differences between paired samples using the Shapiro-Wilk test and evaluated the significance of mean differences using paired t-tests and adjusted for multiple testing. We explored the relationship between the cephalometric measurements and height, head circumference and interpupillary distance. RESULTS: In this dataset of American whites with NF1, we confirmed in a modestly larger sample many of the findings found by Heerva et al. in an NF1 Finnish cohort. We found a shorter maxilla, mandible, cranial base, (especially anteriorly, p = 0.0001) and diminished facial height in adults, but not children, with NF1. Only one adult exhibited hypertelorism. CONCLUSIONS: The cephalometric differences in adults arise in part from cranial base shortening and thus result in a shorter face, mid-face hypoplasia, reduced facial projection, smaller jaw, and increased braincase globularity. In addition, we suggest that NF1 sphenoid bone shortening, a common event, is consistent with an intrinsic NF1 bone cell defect, which renders the bone more vulnerable to a random "second hit" in NF1, leading to sphenoid wing dysplasia, a rare event.
[Mh] MeSH terms primary: Bone Diseases, Developmental/pathology
Neurofibromatosis 1/pathology
Sphenoid Bone/pathology
[Mh] MeSH terms secundary: Adolescent
Adult
Cephalometry
Child
Facies
Female
Humans
Male
Middle Aged
Sphenoid Bone/growth & development
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., INTRAMURAL
[Em] Entry month:1609
[Cu] Class update date: 161025
[Lr] Last revision date:161025
[Js] Journal subset:IM
[Da] Date of entry for processing:151124
[St] Status:MEDLINE

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[PMID]: 26111080
[Au] Autor:Bhoj EJ; Li D; Harr MH; Tian L; Wang T; Zhao Y; Qiu H; Kim C; Hoffman JD; Hakonarson H; Zackai EH
[Ad] Address:Department of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
[Ti] Title:Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome.
[So] Source:Am J Med Genet A;167A(11):2497-502, 2015 Nov.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:ENG
[Ab] Abstract:Teebi hypertelorism syndrome is a rare autosomal dominant disorder that has eluded a molecular etiology since first described in 1987. Here we report on two unrelated families with a Teebi hypertelorism-like syndrome and Teebi hypertelorism phenotype who have missense mutations in Sperm Antigen With Calponin Homology And Coiled-Coil Domains (SPECC1L), previously associated with oblique facial clefting and Opitz G/BBB syndrome. The first patient and his affected mother were previously-reported by Hoffman et al. in this journal as a new syndrome resembling Teebi hypertelorism and Aarskog syndromes in 2007. This patient had hypertelorism, sagittal and coronal craniosynostosis, ptosis, natal teeth, unusual umbilicus, shawl scrotum, small hands, and feet, with grossly normal development. Our second patient had classic Teebi hypertelorism syndrome with hypertelorism and a giant umbilical hernia. Patient one and his affected mother had a c.1260G>C:p.E420D variant and patient two had a de novo c.1198_1203delATACAC:p.I400_H401del variant in SPECC1L. We review the phenotypic findings in the previously-published Teebi hypertelorism syndrome patients, and the Opitz G/BBB patients with SPECC1L mutations. In addition we emphasize the findings of aortic root dilation and craniosynostosis in these patients, which should be considered in their management.
[Mh] MeSH terms primary: Hypertelorism/genetics
Mutation/genetics
Phosphoproteins/genetics
[Mh] MeSH terms secundary: Adolescent
Base Sequence
Child
Child, Preschool
DNA Mutational Analysis
Facies
Family
Humans
Infant
Infant, Newborn
Male
Molecular Sequence Data
Phenotype
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Mip1 phosphoprotein, human); 0 (Phosphoproteins)
[Em] Entry month:1608
[Cu] Class update date: 161025
[Lr] Last revision date:161025
[Js] Journal subset:IM
[Da] Date of entry for processing:151020
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.37217


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