Charles E Schwartz, Roger E Stevenson, Tao Wang

Atlas of X-Linked Intellectual Disability Syndromes

• Gebundenes Buch

Produktbeschreibung

Atlas of X-Linked Intellectual Disability Syndromes, 3rd Edition is a comprehensive reference for clinicians, laboratory geneticists, and researchers working to diagnose and understand X-linked intellectual disability (XLID). This updated edition presents a concise yet thorough overview of all known XLID syndromes, incorporating the latest clinical findings and gene discoveries. Each syndrome entry includes hallmark somatic features, developmental and neurological characteristics, patterns of female expression, and the causative gene if known. A differential diagnosis matrix that follows each entry helps narrow diagnostic possibilities and guides targeted genetic testing. Appendices group syndromes by shared clinical features, offering a practical tool for comparison. New content in this edition addresses duplications within the X chromosome involving XLID genes, XLID-associated Congenital Disorders of Glycosylation, skewed X-inactivation in female carriers, and genes that escape inactivation. The XLID Syndrome Atlas remains an essential tool for navigating the evolving genetics of intellectual disability.

Produktdetails

• Verlag: Oxford University Press
• 3rd edition
• Seitenzahl: 600
• Erscheinungstermin: 17. April 2026
• Englisch
• ISBN-13: 9780197809020
• ISBN-10: 0197809022
• Artikelnr.: 75857812

Autorenporträt

Charles E. Schwartz, Ph.D - As research fellow at the Department of Haematology at University of Utah, Dr. Schwartz laid the groundwork for the discovery of both breast and colon cancer genes. He established the molecular genetics laboratory at the Greenwood Genetic Center in 1985. Until his retirement in May 2019, Dr. Schwartz's research interests focused on the causes of intellectual disabilities (ID) and autism. Besides identifying over 27 XLID genes, his group established abnormal tryptophan metabolism as one feature associated with ASD. He is currently an Adjunct Professor in the Department of Pediatrics and Human Development at Michigan State University, Grand Rapids. Roger E. Stevenson, M.D. - In 1974, Dr. Stevenson left a faculty position at the University of Texas Medical School in Houston to return to his home state of South Carolina to establish the Greenwood Genetic Center. In its 50 years, the GGC has become the state's premier genetic institution with medical genetics training programs, clinics, diagnostic laboratories, and research program. Stevenson's career has been focused on birth defects, intellectual disability, autism, and related disorders. He established the South Carolina Neural Tube Defect Surveillance and Prevention Program in 1992, and has collaborated with Charles Schwartz in Research on X-linked intellectual disabilities since 1985. Tao Wang, M.D., Ph.D.- Dr. Wang is a pediatric and biochemical geneticist, and physician scientist in the McKusick-Nathans Department of Genetic Medicine at Johns Hopkins University School of Medicine. Dr. Wang's clinical and research interests center around understanding genetic basis and mechanism of developmental brain disorders including X-linked intellectual disability and autism, and inborn errors of metabolism including phenylketonuria and gyrate atrophy of the choroid and retina. In collaboration with Drs. Stevenson and Schwartz of Greenwood Genetic Center, Dr. Wang's research team has contributed to clinical, genetic, and/or functional characterization of over 20 X-linked intellectual disability genes.

Inhaltsangabe

* FOREWORD
* INTRODUCTION
* AARSKOG SYNDROME
* ABIDI SYNDROME
* ADRENOLEUKODYSTROPHY
* AGENESIS OF THE CORPUS CALLOSUM, X-LINKED
* AHMAD SYNDROME
* AICARDI SYNDROME
* ALG13 CONGENITAL DISORDER OF GLYCOSYLATION
* ALLAN-HERNDON-DUDLEY SYNDROME
* ALPHA-THALASSEMIA INTELLECTUAL DISABILITY (SEE ALSO ATRX-ASSOCIATED
XLID)
* AP1S2-ASSOCIATED XLID
* APAK ATAXIA-SPASTIC DIPLEGIA SYNDROME
* ARMFIELD SYNDROME
* ARTS SYNDROME
* ARX-ASSOCIATED XLID
* ATAXIA-DEAFNESS-DEMENTIA, X-LINKED
* ATAXIA-SEIZURES-HEARING LOSS
* ATKIN-FLAITZ SYNDROME
* ATP6AP2 CONGENITAL DISORDER OF GLYCOSYLATION
* ATRX-ASSOCIATED XLID
* BERGIA CARDIOMYOPATHY
* BERTINI SYNDROME
* BÖRJESON-FORSSMAN-LEHMANN SYNDROME
* BRANCHIAL ARCH SYNDROME, X-LINKED
* C1GALT1C1 CHAPERONOPATHY
* CANTU SYNDROME
* CARPENTER-WAZIRI SYNDROME (SEE ALSO ATRX-ASSOCIATED XLID)
* CEREBRO-CEREBELLO-COLOBOMA SYNDROME
* CEREBRO-OCULO-GENITAL SYNDROME
* CEREBRO-PALATO-CARDIAC SYNDROME (SEE ALSO RENPENNING SYNDROME)
* CHARCOT-MARIE-TOOTH NEUROPATHY, COWCHOCK VARIANT
* CHASSAING-LACOMBE CHONDRODYSPLASIA
* CHRISTIAN SYNDROME
* CHRISTIANSON SYNDROME
* CHUDLEY-LOWRY SYNDROME (SEE ALSO ATRX-ASSOCIATED XLID)
* CK SYNDROME
* COFFIN-LOWRY SYNDROME
* CORNELIA DE LANGE SYNDROME 2
* CORNELIA DE LANGE SYNDROME 5
* CRANIOFACIOSKELETAL SYNDROME
* CREATINE TRANSPORTER DEFICIENCY
* DEAD/H-BOX-RELATED XLID
* DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85
* DHSRX CONGENITAL DISORDER OF GLYCOSYLATION
* DUCHENNE MUSCULAR DYSTROPHY
* DYSKERATOSIS CONGENITA
* EPILEPSY-INTELLECTUAL DISABILITY IN FEMALES
* FITZSIMMONS SYNDROME
* FLNA-ASSOCIATED XLID
* FRAGILE X SYNDROME
* GABRA3-RELATED XLID-SEIZURES
* GALLOWAY-MOWAT SYNDROME 2
* GIUFFRÈ-TSUKAHARA SYNDROME
* GLRA2-RELATED XLID
* GLYCEROL KINASE DEFICIENCY
* GOLABI-ITO-HALL SYNDROME: (SEE ALSO RENPENNING SYNDROME)
* GOLDBLATT SPASTIC PARAPLEGIA SYNDROME
* GOLTZ SYNDROME
* GPKOW-RELATED XLID
* GRAHAM ANOPHTHALMIA SYNDROME
* GUSTAVSON SYNDROME
* HALL OROFACIAL SYNDROME
* HEREDITARY BULLOUS DYSTROPHY, X-LINKED
* HNRNPH2-RELATED XLID
* HOLMES-GANG SYNDROME (SEE ALSO ATRX-ASSOCIATED XLID)
* HOMFRAY SEIZURES-CONTRACTURES
* HUTCHINSON SYNDROME
* HYDE-FORSTER SYNDROME
* HYDRANENCEPHALY WITH ABNORMAL GENITALIA (SEE ALSO ARX-ASSOCIATED
XLID)
* HYDROCEPHALY-CEREBELLAR AGENESIS SYNDROME
* HYDROCEPHALY-MASA SPECTRUM
* HYPOPARATHYROIDISM, X-LINKED
* INCONTINENTIA PIGMENTI
* JUBERG-MARSIDI-BROOKS SYNDROME
* KABUKI SYNDROME 2
* KANG SYNDROME
* KCND1-RELATED XLID
* KDM5C-RELATED XLID
* KEIPERT SYNDROME
* LENZ MICROPHTHALMIA SYNDROME
* LESCH-NYHAN SYNDROME
* LINEAR SKIN DEFECTS-MULTIPLE ANOMALIES
* LISSENCEPHALY AND ABNORMAL GENITALIA, X-LINKED (SEE ALSO
ARX-ASSOCIATED XLID)
* LISSENCEPHALY, X-LINKED
* LOWE SYNDROME
* LUJAN SYNDROME
* MAGT1 CONGENITAL DISORDER OF GLYCOSYLATION
* MARTIN-PROBST SYNDROME
* MED12-RELATED XLID
* MEHMO SYNDROME
* MEND SYNDROME
* MENKES SYNDROME
* MICROPHTHALMIA 2
* MICROPHTHALMIA 13
* MIDAS SYNDROME
* MILES-CARPENTER SYNDROME
* MOHR-TRANEBJAERG SYNDROME
* MONOAMINE OXIDASE-A DEFICIENCY
* MSL3-RELATED XLID
* MUCOPOLYSACCHARIDOSIS IIA
* MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
* MYOTUBULAR MYOPATHY
* NAA10-ASSOCIATED XLID
* N-ALPHA-ACETYLTRANSFERASE DEFICIENCY
* NANCE-HORAN SYNDROME
* NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
* NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS
* NKAP-RELATED XLID
* NONO-RELATED XLID
* NORRIE DISEASE
* O-GlcNAc TRANSFERASE DEFICIENCY
* OGDEN SYNDROME (SEE ALSO NAA10-ASSOCIATED XLID)
* OPITZ FG SYNDROME
* OPTIC ATROPHY, X-LINKED
* ORAL-FACIAL-DIGITAL SYNDROME I
* ORNITHINE TRANSCARBAMOYLASE DEFICIENCY
* OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
* OTOPALATODIGITAL SYNDROME I (SEE ALSO FLNA-ASSOCIATED XLID)
* OTOPALATODIGITAL SYNDROME II (SEE ALSO FLNA-ASSOCIATED XLID)
* PAINE SYNDROME
* PALLISTER W SYNDROME
* PARTINGTON SYNDROME (SEE ALSO ARX-ASSOCIATED XLID)
* PELIZAEUS-MERZBACHER SYNDROME
* PERIVENTRICULAR NODULAR HETEROTOPIA (SEE ALSO FLNA-ASSOCIATED XLID)
* PETTIGREW SYNDROME
* PHOSPHOGLYCERATE KINASE DEFICIENCY
* PIGA-ASSOCIATED XLID
* PLOTT SYNDROME
* PORTEOUS SYNDROME (SEE ALSO RENPENNING SYNDROME)
* PPM-X
* PRIETO SYNDROME
* PROUD SYNDROME (SEE ALSO ARX-ASSOCIATED XLID)
* PYRUVATE DEHYDROGENASE DEFICIENCY
* RAYMOND TYPE XLID
* RENPENNING SYNDROME
* RETT SYNDROME
* RETT-LIKE SEIZURES-HYPOTONIA
* RITSCHER-SCHINZEL SYNDROME 2
* RNF113A-RELATED XLID
* SAY-MEYER SYNDROME
* SCHIMKE SYNDROME
* SH3KBP1-RELATED XLID
* SHASHI SYNDROME
* SHRIMPTON SYNDROME
* SHUKLA-VERNON SYNDROME
* SIMPSON-GOLABI-BEHMEL SYNDROME
* SLC35A2 CONGENITAL DISORDER OF GLYCOSYLATION
* SLITRK2-RELATED XLID
* SMARCA1-RELATED XLID
* SMITH-FINEMAN-MYERS SYNDROME
* SNYDER-ROBINSON SYNDROME
* SSR4 CONGENITAL DISORDER OF GLYCOSYLATION
* STAG-RELATED HOLOPROSENCEPHALY
* STAG2-RELATED XLID
* STOCCO DOS SANTOS SYNDROME
* STOLL SYNDROME
* SUTHERLAND-HAAN SYNDROME (SEE ALSO RENPENNING SYNDROME)
* TARP SYNDROME
* TCEAL1-RELATED XLID
* TELECANTHUS-HYPOSPADIAS SYNDROME
* TURNER XLID (SEE ALSO AP1S2-ASSOCIATED XLID)
* URBAN SYNDROME
* USP9X-RELATED XLID
* VACTERL-HYDROCEPHALUS SYNDROME
* VASQUEZ SYNDROME
* WAISMAN-LAXOVA SYNDROME
* WARKANY SYNDROME
* WDR44 CILIOPATHY
* WIEACKER-WOLFF SYNDROME
* WIEACKER-WOLFF SYNDROME, FEMALE RESTRICTED
* WILSON-TURNER SYNDROME
* XLID-ARCH FINGERPRINTS-HYPOTONIA SYNDROME (SEE ALSO ATRX-ASSOCIATED
XLID)
* XLID-ATAXIA-APRAXIA
* XLID-ATAXIA-DEMENTIA
* XLID-ATAXIA-SEIZURES
* XLID-BLINDNESS-SEIZURES-SPASTICITY
* XLID-BRAIN ANOMALIES-ATAXIA
* XLID-CHOREOATHETOSIS
* XLID-CHOROIDEREMIA-ECTODERMAL DYSPLASIA
* XLID-CLEFT LIP/CLEFT PALATE
* XLID-EPILEPSY (XIDE)
* XLID-HYDROCEPHALY-BASAL GANGLIA CALCIFICATIONS (SEE ALSO
AP1S2-ASSOCIATED XLID)
* XLID-HYPEREKPLEXIA-SEIZURES
* XLID-HYPOGAMMAGLOBULINEMIA
* XLID-HYPOGONADISM-TREMOR
* XLID-HYPOSPADIAS
* XLID-HYPOTONIA-RECURRENT INFECTIONS
* XLID-INFANTILE SPASMS (SEE ALSO ARX-ASSOCIATED XLID)
* XLID-ISOLATED GROWTH HORMONE DEFICIENCY
* XLID-MACROCEPHALY
* XLID-MACROCEPHALY-MACROORCHIDISM
* XLID-MICROCEPHALY-TESTICULAR FAILURE
* XLID-MITOCHONDRIAL MYOPATHY
* XLID-MULTIPLE ANOMALIES-EARLY LETHALITY
* XLID-NAIL DYSTROPHY-SEIZURES
* XLID-NYSTAGMUS-SEIZURES
* XLID-PANHYPOPITUITARISM
* XLID-PIGMENTARY MOSAICISM
* XLID-PSORIASIS
* XLID-RETICULATE HYPERPIMENTATION
* XLID-RETINITIS PIGMENTOSA
* XLID-RETINOPATHY-SEIZURES
* XLID-ROLANDIC SEIZURES
* XLID-SEIZURES-APHASIA
* XLID-SPASTIC PARAPLEGIA, TYPE 7
* XLID-SPASTIC PARAPLEGIA-ATHETOSIS
* XLID-SPONDYLOEPIMETAPHYSEAL DYSPLASIA
* XLID-TRIGONOCEPHALY
* X-LINKED OHDO SYNDROME
* X-LINKED OLIVOPONTOCEREBELLAR ATROPHY
* YOUNG-HUGHES SYNDROME
* ZC4H2-ASSOCIATED XLID
* ZFP92-RELATED XLID
* ZFX-RELATED XLID
* ZMYM3-RELATED XLID
* APPENDICES
* I. GENES INVOLVED IN X-LINKED INTELLECTUAL DISABILITY (BY ORDER OF
DISCOVERY)
* II. XLID SYNDROMES WITH MICROCEPHALY
* III. XLID SYNDROMES WITH MACROCEPHALY
* IV. XLID SYNDROMES WITH OCULAR ANOMALIES AND/OR VISUAL IMPAIRMENT
* V. XLID SYNDROME WITH HEARING LOSS
* VI. XLID SYNDROMES WITH FACIAL CLEFTING
* VII. XLID SYNDROMES WITH CARDIAC MALFORMATIONS OR OTHER
CARDIOVASCULAR ABNORMALITIES
* VIII. XLID SYNDROMES WITH UROGENITAL ANOMALIES
* IX. XLID SYNDROMES WITH NEURONAL MIGRATION DISTURBANCE
* X. XLID SYNDROMES WITH SPASTIC PARAPLEGIA
* XI. XLID SYNDROMES WITH SEIZURES
* XII. XLID SYNDROMES WITH HYPOTONIA
* XIII. XLID SYNDROMES PREDOMINANTLY AFFECTING FEMALES
* XIV. DUPLICATION OF XLID GENES AND REGIONS OF THE X-CHROMOSOME GENOME
* XV. X-INACTIVATION
* XVI A. Xp SYNDROMAL XLID GENES
* XVI B. Xq SYNDROMAL XLID GENES
* XVI C. SYNDROMAL XLID GENES
* XVII. SYNDROMAL XLID (LINKAGE LIMITS)
* XVIII. NONSYNDROMAL XLID FAMILIES (LINKAGE LIMITS)
* XIX. NONSYNDROMAL XLID FAMILIES
* XX. X-LINKED DISORDERS WITH INTELLECTUAL DISABILITY AND AUTISM
* INDEX