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    8006 results match your criteria American Journal of Medical Genetics Part A[Journal]

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    Cover Image, Volume 176A, Number 2, February 2018.
    Am J Med Genet A 2018 Feb;176(2)
    Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Department of Pediatrics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.
    The cover image, by Ming Hui Chen et al., is based on the Original Article Thoracic Aortic Aneurysm in Patients with Loss of Function Filamin A Mutations: Clinical Characterization, Genetics, and Recommendations, DOI: 10.1002/ajmg. Read More

    Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations.
    Am J Med Genet A 2018 Feb;176(2):337-350
    Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Department of Pediatrics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.
    The frequency and gender distribution of thoracic aortic aneurysm as a cardiovascular manifestation of loss-of-function (LOF) X-linked FilaminA (FLNA) mutations are not known. Furthermore, there is very limited cardiovascular morbidity or mortality data in children and adults. We analyzed cardiac data on the largest series of 114 patients with LOF FLNA mutations, both children and adults, with periventricular nodular heterotopia (PVNH), including 48 study patients and 66 literature patients, median age of 22. Read More

    Spectrum of bone marrow pathology and hematological abnormalities in methylmalonic acidemia.
    Am J Med Genet A 2018 Jan 13. Epub 2018 Jan 13.
    Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
    Patients with isolated methylmalonic acidemia (MMA) may present with a wide range of hematological complications including anemia, leukopenia, thrombocytopenia, and pancytopenia. However, there are very limited data on the development of hemophagocytosis or myelodysplasia in these patients. We report three patients with isolated MUT related MMA who presented with severe refractory pancytopenia during acute illness. Read More

    A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.
    Am J Med Genet A 2018 Jan 5. Epub 2018 Jan 5.
    UOC Neurochirurgia, Istituto Giannina Gaslini, Genoa, Italy.
    Sheldon-Hall syndrome (SHS) is the most common of the distal arthrogryposes (DAs), a group of disorders characterized by congenital non-progressive contractures. Patients with SHS present with contractures of the limbs and a distinctive triangular facies with prominent nasolabial folds. Calcaneovalgus deformity is frequent, as well as camptodactyly and ulnar deviation. Read More

    UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.
    Am J Med Genet A 2017 Dec 28. Epub 2017 Dec 28.
    Dipartimento di Biochimica, Biofisica e Patologia Generale, Università degli Studi della Campania "Luigi Vanvitelli,", Naples, Italy.
    UBE2A deficiency is a syndromic condition of X-linked intellectual disability (ID) characterized by typical dysmorphic features that include synophrys, prominent supraorbital ridges, almond-shaped, and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, micropenis, and onychodystrophy. To date, only seven familial UBE2A intragenic mutations and nine larger microdeletions encompassing UBE2A have been reported. Here, we describe two siblings with X-linked ID and typical clinical features of UBE2A deficiency caused by a novel hemizygous variant, identified by massively parallel sequencing of X-exome. Read More

    Genetic diagnosis of Down syndrome in an underserved community.
    Am J Med Genet A 2018 Feb 26;176(2):483-486. Epub 2017 Dec 26.
    Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
    It is a matter of course that in high-income countries, infants born with features suggestive of Down syndrome (DS) are offered genetic testing for confirmation of a clinical diagnosis. Benefits of a definitive diagnosis include an end to the diagnostic odyssey, informed prognosis, opportunities for caregiver support, inclusion to social support networks, and more meaningful genetic counseling. The healthcare experience for families of children born with DS in low- and middle-income nations is in stark contrast with such a level of care. Read More

    Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies.
    Am J Med Genet A 2018 Feb 23;176(2):359-367. Epub 2017 Dec 23.
    Department of Pathology, Children's Mercy Hospital, Kansas City, Missouri.
    Arthrogryposis multiplex congenita affects approximately 1 in 3,000 individuals of different ethnic backgrounds and displays an equal incidence in males and females. The underlying mechanism for congenital contracture of the joints is decreased fetal movement during intrauterine development. This disorder is associated with over 400 medical conditions and 350 known genes that display considerable variability in phenotypic expression. Read More

    The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor.
    Am J Med Genet A 2018 Feb 22;176(2):470-476. Epub 2017 Dec 22.
    Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
    Noonan syndrome is characterized by typical craniofacial dysmorphism, postnatal growth retardation, congenital heart defect, and learning difficulties and belongs to the RASopathies, a group of neurodevelopmental disorders caused by germline mutations in genes encoding components of the RAS-MAPK pathway. Mutations in the RAF1 gene are associated with Noonan syndrome, with a high prevalence of hypertrophic cardiomyopathy (HCM). RAF1 mutations cluster in exons encoding the conserved region 2 (CR2), the kinase activation segment of the CR3 domain, and the C-terminus. Read More

    Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X.
    Am J Med Genet A 2018 Feb 22;176(2):450-454. Epub 2017 Dec 22.
    Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Canada.
    Mesomelic and rhizo-mesomelic dysplasias are a group of disorders characterized by abnormal shortening of the limbs. One of the most common causes of mesomelic shortening is the loss of the transcription factor SHOX. In this clinical report, we present a patient who in addition to mesomelic shortening has severe rhizomelic shortening and developmental delay. Read More

    Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies.
    Am J Med Genet A 2018 Feb 22;176(2):438-442. Epub 2017 Dec 22.
    Center for Human Genetics, Bioscientia, Ingelheim, Germany.
    Ciliopathies are disorders of the primary cilium that can affect almost all organs and that are characterized by pleiotropy and extensive intra- and interfamilial phenotypic variability. Accordingly, mutations in the same gene can cause different ciliopathy phenotypes of varying severity. WDR60 encodes a protein thought to play a role in the primary cilium's intraflagellar transport machinery. Read More

    Prader-Willi syndrome and early-onset morbid obesity NIH rare disease consortium: A review of natural history study.
    Am J Med Genet A 2018 Feb 22;176(2):368-375. Epub 2017 Dec 22.
    University of Florida, Gainesville, Florida.
    We describe the National Institutes of Health rare disease consortium for Prader-Willi syndrome (PWS) developed to address concerns regarding medical care, diagnosis, growth and development, awareness, and natural history. PWS results from errors in genomic imprinting leading to loss of paternally expressed genes due to 15q11-q13 deletion, maternal disomy 15 or imprinting defects. The 8 year study was conducted at four national sites on individuals with genetically confirmed PWS and early-onset morbid obesity (EMO) with data accumulated to gain a better understanding of the natural history, cause and treatment of PWS. Read More

    Elsahy-Waters syndrome is caused by biallelic mutations in CDH11.
    Am J Med Genet A 2018 Feb 22;176(2):477-482. Epub 2017 Dec 22.
    Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
    Elsahy-Waters syndrome (EWS), also known as branchial-skeletal-genital syndrome, is a distinct dysmorphology syndrome characterized by facial asymmetry, broad forehead, marked hypertelorism with proptosis, short and broad nose, midface hypoplasia, intellectual disability, and hypospadias. We have recently published a homozygous potential loss of function variant in CDH11 in a boy with a striking resemblance to EWS. More recently, another homozygous truncating variant in CDH11 was reported in two siblings with suspected EWS. Read More

    A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history.
    Am J Med Genet A 2018 Feb 21;176(2):415-420. Epub 2017 Dec 21.
    Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut.
    Germline gain-of-function variants in SAMD9 have been associated with a high risk of mortality and a newly recognized constellation of symptoms described by the acronym MIRAGE: Myelodysplasia, Infection, Restriction of growth, Adrenal insufficiency, Genital phenotypes, and Enteropathy. Here, we describe two additional patients currently living with the syndrome, including one patient with a novel de novo variant for which we provide functional data supporting its pathogenicity. We discuss features of dysmorphology, contrasting with previously described patients as well as drawing attention to additional clinical features, dysautonomia and hearing loss that have not previously been reported. Read More

    Manifestation of recessive combined D-2-, L-2-hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome.
    Am J Med Genet A 2018 Feb 19;176(2):351-358. Epub 2017 Dec 19.
    Department of Pediatrics, Ehime University Graduate School of Medicine, Toon, Ehime, Japan.
    22q11.2 deletion syndrome is one of the most common human microdeletion syndromes. The clinical phenotype of 22q11. Read More

    The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.
    Am J Med Genet A 2018 Feb 19;176(2):465-469. Epub 2017 Dec 19.
    Division of Medical Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.
    RNU4ATAC pathogenic variants to date have been associated with microcephalic osteodysplastic primordial dwarfism, type 1 and Roifman syndrome. Both conditions are clinically distinct skeletal dysplasias with microcephalic osteodysplastic primordial dwarfism, type 1 having a more severe phenotype than Roifman syndrome. Some of the overlapping features of the two conditions include developmental delay, microcephaly, and immune deficiency. Read More

    Patient perspectives on the use of categories of conditions for decision making about genomic carrier screening results.
    Am J Med Genet A 2018 Feb 18;176(2):376-385. Epub 2017 Dec 18.
    Treuman Katz Center for Pediatric Bioethics, Seattle Children's Hospital and Research Institute, Seattle, Washington.
    As expanded genome-scale carrier screening becomes increasingly prevalent, patients will face decisions about whether to receive results about a vast number of genetic conditions. Understanding patient preferences is important to meaningfully demonstrate the ethical goal of respect and support patient autonomy. We explore one possible way to elicit preferences by sorting conditions into categories, which may support patient decision making, but the extent to which categories are helpful is unknown. Read More

    Allometric considerations when assessing aortic aneurysms in Turner syndrome: Implications for activity recommendations and medical decision-making.
    Am J Med Genet A 2018 Feb 15;176(2):277-282. Epub 2017 Dec 15.
    Department of Pediatrics, Doernbecher Children's Hospital, Oregon Health & Science University, Portland, Oregon.
    In Turner syndrome, the potential to form thoracic aortic aneurysms requires routine patient monitoring. However, the short stature that typically occurs complicates the assessment of severity and risk because the relationship of body size to aortic dimensions is different in Turner syndrome compared to the general population. Three allometric formula have been proposed to adjust aortic dimensions, all employing body surface area: aortic size index, Turner syndrome-specific Z-scores, and Z-scores based on a general pediatric and young adult population. Read More

    Cover Image, Volume 176A, Number 1, January 2018.
    Am J Med Genet A 2018 Jan;176(1)
    Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan.
    The cover image, by Satoru Ikenoue et al., is based on the Clinical Report Discordant fetal phenotype of hypophosphatasia in two siblings, DOI: 10.1002/ajmg. Read More

    Associations between laterality of orofacial clefts and medical and academic outcomes.
    Am J Med Genet A 2018 Feb 12;176(2):267-276. Epub 2017 Dec 12.
    Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.
    Patients with oral clefts have an increased risk of other malformations, syndromes, and lower academic performance in school. Few studies have investigated if laterality of clefts is associated with medical and academic outcomes. Oral clefts have nonrandom laterality, with left-sided clefts occurring approximately twice as often as right-sided clefts. Read More

    A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot.
    Am J Med Genet A 2018 Feb 12;176(2):426-430. Epub 2017 Dec 12.
    Department of Translational Medicine, Federico II University, Naples, Italy.
    Myhre syndrome is a rare autosomal dominant disorder caused by a narrow spectrum of missense mutations in the SMAD4 gene. Typical features of this disorder are distinctive facial appearance, deafness, intellectual disability, cardiovascular abnormalities, short stature, short hands and feet, compact build, joint stiffness, and skeletal anomalies. The clinical features generally appear during childhood and become more evident in older patients. Read More

    Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.
    Am J Med Genet A 2018 Feb 11;176(2):421-425. Epub 2017 Dec 11.
    Department of Neurosurgery, Program on Neurogenetics, Yale School of Medicine, New Haven, Connecticut.
    We here describe novel compound heterozygous missense variants, NM_133443:c.[400C>T] and NM_133443:[1435G>A], in the glutamic-pyruvic transaminase 2 (GPT2) gene in a large consanguineous family with two affected siblings diagnosed with microcephaly intellectual disability and developmental delay (IDD). In addition to these clinical phenotypes, the male sibling has spastic paraplegia, and the female sibling has epilepsy. Read More


    A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders.
    Am J Med Genet A 2018 Feb 11;176(2):455-459. Epub 2017 Dec 11.
    Institute of Genomic Medicine, A. Gemelli Hospital, Catholic University, Rome, Italy.
    KAT6B sequence variants have been identified in both patients with the Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and in the genitopatellar syndrome (GPS). In SBBYSS, they were reported to affect mostly exons 16-18 of KAT6B, and the predicted mechanism of pathogenesis was haploinsufficiency or a partial loss of protein function. Truncating variants in KAT6B leading to GPS appear to cluster within the proximal portion of exon 18, associated with a dominant-negative effect of the mutated protein, most likely. Read More

    "Lowe syndrome: A particularly severe phenotype without clinical kidney involvement".
    Am J Med Genet A 2018 Feb 11;176(2):460-464. Epub 2017 Dec 11.
    Département de Biochimie Pharmacologie Toxicologie, Biochimie et Génétique Moléculaire, Centre Hospitalier Universitaire Grenoble Alpes, Université Grenoble Alpes, Grenoble, France.
    Lowe syndrome (LS) is a very rare disorder of phosphatidylinositol metabolism, which manifests with a complex phenotype comprising a clinical triad encompassing major abnormalities of the eyes, the kidneys, and the central nervous system. We are reporting a 23-year-old Egyptian male with a severe phenotype of LS with a minimal kidney disease. Direct sequencing of the OCRL gene detected a p. Read More

    Spontaneously regressing brain lesions in Smith-Lemli-Opitz syndrome.
    Am J Med Genet A 2018 Feb 11;176(2):386-390. Epub 2017 Dec 11.
    Division of Translational Research, Eunice Kennedy Shriver National Institute of Human Development (NICHD), National Institutes of Health, Bethesda, Maryland.
    Smith-Lemli-Opitz syndrome (SLOS) is a metabolic disorder caused by an inborn error of cholesterol synthesis that affects the development of many organ systems. Malformations in the central nervous system typically involve midline structures and reflect abnormal growth and differentiation of neurons and supporting cells. Despite these defects in central nervous system development, brain tumor formation has only rarely been reported in association with SLOS. Read More

    Small supernumerary marker chromosome 15 and a ring chromosome 15 associated with a 15q26.3 deletion excluding the IGF1R gene.
    Am J Med Genet A 2018 Feb 11;176(2):443-449. Epub 2017 Dec 11.
    Department of Medical Genetics, University of Pécs, Pécs, Hungary.
    Array comparative genomic hybridization is essential in the investigation of chromosomal rearrangements associated with epilepsy, intellectual disability, and dysmorphic features. In many cases deletions, duplications, additional marker chromosomes, and ring chromosomes originating from chromosome 15 lead to abnormal phenotypes. We present a child with epilepsy, cardiac symptoms, severely delayed mental and growth development, behavioral disturbances and characteristic dysmorphic features showing a ring chromosome 15 and a small supernumerary marker chromosome. Read More

    A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion.
    Am J Med Genet A 2018 Feb 11;176(2):330-336. Epub 2017 Dec 11.
    The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer-Sheva, Israel.
    SLC25A1 mutations are associated with combined D,L-2-hydroxyglutaric aciduria (DL- 2HGA; OMIM #615182), characterized by muscular hypotonia, severe neurodevelopmental dysfunction and intractable seizures. SLC25A1 encodes the mitochondrial citrate carrier (CIC), which mediates efflux of the mitochondrial tricarboxylic acid (TCA) cycle intermediates citrate and isocitrate in exchange for cytosolic malate. Only a single family with an SLC25A1 mutation has been described in which mitochondrial respiratory chain dysfunction was documented, specifically in complex IV. Read More

    Therapy development in Huntington disease: From current strategies to emerging opportunities.
    Am J Med Genet A 2017 Dec 8. Epub 2017 Dec 8.
    Departments of Neurology, Neurobiology, and Cell Biology, Duke Center for Neurodegeneration & Neurotherapeutics, Duke University Medical Center, Durham, North Carolina.
    Huntington disease (HD) is a progressive autosomal dominant neurodegenerative disorder in which patients typically present with uncontrolled involuntary movements and subsequent cognitive decline. In 1993, a CAG trinucleotide repeat expansion in the coding region of the huntingtin (HTT) gene was identified as the cause of this disorder. This extended CAG repeat results in production of HTT protein with an expanded polyglutamine tract, leading to pathogenic HTT protein conformers that are resistant to protein turnover, culminating in cellular toxicity and neurodegeneration. Read More

    Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).
    Am J Med Genet A 2018 Feb 6;176(2):301-310. Epub 2017 Dec 6.
    Rare Metabolic Disease Unit, Pediatric Department, Fondazione MBBM, San Gerardo Hospital, Monza, Italy.
    Several cases of phenotypic variability among family members with mucopolysaccharidosis type II (MPS II) have been reported, but the data are limited. Data from patients enrolled in the Hunter Outcome Survey (HOS) were used to investigate intrafamilial variability in male siblings with MPS II. As of July 2015, data were available for 78 patients aged ≥5 years at last visit who had at least one affected sibling (39 sibling pairs). Read More

    Auditory evoked potentials in children and adolescents with Down syndrome.
    Am J Med Genet A 2018 Jan 6;176(1):68-74. Epub 2017 Dec 6.
    Audiology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
    Down syndrome, or trisomy 21, is the most common genetic alteration in humans. The syndrome presents with several features, including hearing loss and changes in the central nervous system, which may affect language development in children and lead to school difficulties. The present study aimed to investigate group differences in the central auditory system by long-latency auditory evoked potentials and cognitive potential. Read More

    Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms.
    Am J Med Genet A 2018 Feb 3;176(2):404-408. Epub 2017 Dec 3.
    Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
    Perrault syndrome represents a genetically heterogeneous disorder characterized by sensorineural hearing loss in males and females and ovarian dysfunction in females. Causative genes include HARS2, HSD17B4, CLPP, C10orf2, and LARS2. Some patients with Perrault syndrome exhibit neurologic features including learning disability, cerebellar ataxia, and peripheral neuropathy and are classified as type 2 and are clinically separate from those without neurological symptoms other than a hearing loss (type 1). Read More

    Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities.
    Am J Med Genet A 2018 Feb 1;176(2):319-329. Epub 2017 Dec 1.
    Department of Human Genetics and Genomic Medicine, University of Southampton, Southampton General Hospital, Southampton, UK.
    The direct transmission of microscopically visible unbalanced chromosome abnormalities (UBCAs) is rare and usually has phenotypic consequences. Here we report four families in which a normal phenotype was initially found in one or more family members. Each UBCA was interpreted with regard to overlapping examples and factors previously associated with transmitted imbalances including incidental ascertainment, low gene density, benign copy number variation (CNV) content, and gene relatedness. Read More

    Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency.
    Am J Med Genet A 2018 Feb 30;176(2):399-403. Epub 2017 Nov 30.
    Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
    Biallelic likely pathogenic variants in SLC52A2 and SLC52A3 cause riboflavin transporter deficiency. It is characterized by muscle weakness, ataxia, progressive ponto-bulbar palsy, amyotrophy, and sensorineural hearing loss. Oral riboflavin halts disease progression and may reverse symptoms. Read More

    Clinical and genetic characterization of AP4B1-associated SPG47.
    Am J Med Genet A 2018 Feb 28;176(2):311-318. Epub 2017 Nov 28.
    Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, and Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.
    The hereditary spastic paraplegias (HSPs) are a heterogeneous group of disorders characterized by degeneration of the corticospinal and spinocerebellar tracts leading to progressive spasticity. One subtype, spastic paraplegia type 47 (SPG47 or HSP-AP4B1), is due to bi-allelic loss-of-function mutations in the AP4B1 gene. AP4B1 is a subunit of the adapter protein complex 4 (AP-4), a heterotetrameric protein complex that regulates the transport of membrane proteins. Read More

    Oligonephronia and Wolf-Hirschhorn syndrome: A further observation.
    Am J Med Genet A 2018 Feb 28;176(2):409-414. Epub 2017 Nov 28.
    Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli, Catholic University, Rome, Italy.
    Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder caused by a partial deletion of chromosome 4 (4p16.3p16.2). Read More

    Cognitive and behavioral phenotype of children with pseudohypoparathyroidism type 1A.
    Am J Med Genet A 2018 Feb 28;176(2):283-289. Epub 2017 Nov 28.
    Division of Pediatric Endocrinology, Vanderbilt University Medical Center, Nashville, Tennessee.
    Pseudohypoparathyroidism 1A (PHP1A) is a rare, genetic disorder. Most patients with PHP1A have cognitive impairment but this has not been systematically studied. We hypothesized that children with PHP1A would have lower intelligent quotient (IQ) scores than controls. Read More

    Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome.
    Am J Med Genet A 2018 Feb 28;176(2):391-398. Epub 2017 Nov 28.
    Divisionof Medical Genetics, Poliambulatorio "Giovanni Paolo II," IRCCSCasa Sollievo della Sofferenza, Viale Padre Pio, San Giovanni Rotondo FG, Italy.
    Microdeletion of chromosome 22q13.31 is a very rare condition. Fourteen patients have been annotated in public databases but, to date, a clinical comparison has not been done and, consequently, a specific phenotype has not been delineated yet. Read More

    Rare FMR1 gene mutations causing fragile X syndrome: A review.
    Am J Med Genet A 2018 Jan 27;176(1):11-18. Epub 2017 Nov 27.
    Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, Kansas.
    Fragile X syndrome (FXS) is the most common inherited form of intellectual disability, typically due to CGG-repeat expansions in the FMR1 gene leading to lack of expression. We identified a rare FMR1 gene mutation (c.413G>A), previously reported in a single patient and reviewed the literature for other rare FMR1 mutations. Read More

    Higher adaptive functioning and lower rate of psychotic comorbidity in married versus unmarried individuals with 22q11.2 deletion syndrome.
    Am J Med Genet A 2017 Nov 24. Epub 2017 Nov 24.
    The Child Psychiatry Division, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.
    22q11.2 deletion syndrome (22q11.2DS) is a relatively common genetic disorder. Read More

    Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome.
    Am J Med Genet A 2018 Jan 24;176(1):48-55. Epub 2017 Nov 24.
    Department of Dermatology and Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin.
    PHACE syndrome is the association of segmental facial hemangiomas with congenital arterial, brain, cardiac, and ocular anomalies. Structural brain malformations affect 41-52% of PHACE patients and can be associated with focal neurologic deficits, developmental delays, and/or intellectual disability. To better characterize the spectrum of structural brain and other intracranial anomalies in PHACE syndrome, MRI scans of the head/neck were retrospectively reviewed in 55 patients from the PHACE Syndrome International Clinical Registry and Genetic Repository. Read More

    Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1.
    Am J Med Genet A 2018 Feb 23;176(2):431-437. Epub 2017 Nov 23.
    Department of Pediatrics, Aichi Human Service Center, Central Hospital, Aichi, Japan.
    Loss-of function mutations in NALCN on chromosome 13q, a sodium leak channel that maintains baseline neuronal excitability, cause infantile hypotonia with psychomotor retardation and characteristic faces 1 (IHPRF1, OMIM #615419). Here, we document two individuals with early onset hypotonia with poor feeding and intellectual disability who were compatible with a diagnosis of IHPRF1. The two patients had bi-allelic mutations in NALCN through two different genetic mechanisms: Patient 1 had bi-allelic splice site mutations, that is c. Read More

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