A New Autosomal Recessive Form of Stickler Syndrome Is Caused by a Mutation in the COL9A1 Gene Guy Van Camp, Rikkert L. Snoeckx, Nele Hilgert, Jenneke.

Slides:

Advertisements

Similar presentations

 a visual tool for documenting biological relationships in families and the presence of diseases  A pedigree is a family tree or chart made of symbols.

Advertisements

Pedigree Analysis. Why do Pedigrees? Punnett squares and chi-square tests work well for organisms that have large numbers of offspring and controlled.

Date of download: 6/22/2016 Copyright © 2016 American Medical Association. All rights reserved. From: The Clinical Value of the Multiple-Frequency 80-Hz.

Hearing Loss and Hearing Aid Treatment Options

A. B. C. < × >.

Autosomal Dominant Postaxial Polydactyly, Nail Dystrophy, and Dental Abnormalities Map to Chromosome 4p16, in the Region Containing the Ellis–van Creveld.

Audiogram The results from the hearing tests are often displayed in the form of an audiogram.

Rapid Molecular Analysis of the STAT3 Gene in Job Syndrome of Hyper-IgE and Recurrent Infectious Diseases Attila Kumánovics, Carl T. Wittwer, Robert.

A Cardiac Sodium Channel Mutation Cosegregates With a Rare Connexin40 Genotype in Familial Atrial Standstill by W. Antoinette Groenewegen, Mehran Firouzi,

A Mutation in HOXA2 Is Responsible for Autosomal-Recessive Microtia in an Iranian Family Fatemeh Alasti, Abdorrahim Sadeghi, Mohammad Hossein Sanati,

Chronic Infantile Neurological Cutaneous and Articular Syndrome Is Caused by Mutations in CIAS1, a Gene Highly Expressed in Polymorphonuclear Cells and.

Identification of a Major Susceptibility Locus for Restless Legs Syndrome on Chromosome 12q Alex Desautels, Gustavo Turecki, Jacques Montplaisir, Adolfo.

Hearing Loss and Hearing Aid Treatment Options

A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome Reha M. Toydemir, Anna E. Brassington, Pınar Bayrak-Toydemir,

Mapping of Autosomal Dominant Osteopetrosis Type II (Albers-Schönberg Disease) to Chromosome 16p13.3 Olivier Bénichou, Erna Cleiren, Jeppe Gram, Jens.

Genetic Linkage of Paget Disease of the Bone to Chromosome 18q

Autosomal Recessive Nonsyndromic Neurosensory Deafness at DFNB1 Not Associated with the Compound-Heterozygous GJB2 (Connexin 26) Genotype M34T/167delT

Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta Pablo Lapunzina, Mona Aglan, Samia Temtamy, José.

Use of Homozygosity Mapping to Identify a Region on Chromosome 1 Bearing a Defective Gene That Causes Autosomal Recessive Homozygous Hypercholesterolemia.

Exome Sequencing in Brown-Vialetto-Van Laere Syndrome

Inactivating Mutations in ESCO2 Cause SC Phocomelia and Roberts Syndrome: No Phenotype-Genotype Correlation Birgitt Schüle, Angelica Oviedo, Kathreen.

Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21 Wendy Balemans, Jenneke Van Den Ende, Auristela.

High Prevalence of Pathogenic Mutations in Patients with Early-Onset Dementia Detected by Sequence Analyses of Four Different Genes Ulrich Finckh, Tomas.

Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E

Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal- Recessive Osteogenesis Imperfecta Jutta Becker, Oliver Semler, Christian.

Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications Ruth Bargal, Valerie Cormier-Daire, Ziva Ben-Neriah, Martine Le Merrer,

A Family with Isolated Hyperparathyroidism Segregating a Missense MEN1 Mutation and Showing Loss of the Wild-Type Alleles in the Parathyroid Tumors Bin.

Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene Miia Melkoniemi, Han.

Exome Sequencing Identifies SLCO2A1 Mutations as a Cause of Primary Hypertrophic Osteoarthropathy Zhenlin Zhang, Weibo Xia, Jinwei He, Zeng Zhang, Yaohua.

An Immune Defect Causing Dominant Chronic Mucocutaneous Candidiasis and Thyroid Disease Maps to Chromosome 2p in a Single Family T. Prescott Atkinson,

A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia John C. van Swieten, Esther Brusse, Bianca M.

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males Hilde Van Esch, Marijke.

Howard B. Yeon, Noralane M. Lindor, J.G. Seidman, Christine E. Seidman

Identification of Novel and Known Mutations in the Genes for Keratin 5 and 14 in Danish Patients with Epidermolysis Bullosa Simplex: Correlation Between.

Genetic Linkage of Hyper-IgE Syndrome to Chromosome 4

Per M. Knappskog, Jacek Majewski, Avi Livneh, Per Torgeir E

A Gene for Familial Juvenile Polyposis Maps to Chromosome 18q21.1

Kimberly C. Sippel, Rebecca E. Fraioli, Gary D. Smith, Mary E

Hypomethylation of the H19 Gene Causes Not Only Silver-Russell Syndrome (SRS) but Also Isolated Asymmetry or an SRS-Like Phenotype Jet Bliek, Paulien.

The Gene for Naegeli–Franceschetti–Jadassohn Syndrome Maps to 17q21

A Locus for Hereditary Sensory Neuropathy with Cough and Gastroesophageal Reflux on Chromosome 3p22-p24 C. Kok, M.L. Kennerson, P.J. Spring, A.J. Ing,

Localization of a Gene for Benign Adult Familial Myoclonic Epilepsy to Chromosome 8q23.3-q24.1 Masaaki Mikami, Takeshi Yasuda, Akira Terao, Masayuki.

A Locus for Brachydactyly Type A-1 Maps to Chromosome 2q35-q36

Dominant Inheritance of Sialuria, an Inborn Error of Feedback Inhibition Jules G. Leroy, Raili Seppala, Marjan Huizing, George Dacremont, Helena De Simpel,

A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers Wasim Ahmad, Alan.

E. Warwick Daw, Simon C. Heath, Ellen M. Wijsman

A Recurrent Expansion of a Maternal Allele with 36 CAG Repeats Causes Huntington Disease in Two Sisters Franco Laccone, Wilhelm Christian The American.

Guilherme L. Yamamoto, Wagner A. R. Baratela, Tatiana F

Linkage Analysis Identifies a Novel Locus for Restless Legs Syndrome on Chromosome 2q in a South Tyrolean Population Isolate Irene Pichler, Fabio Marroni,

Genetic Linkage of Autosomal-Dominant Alport Syndrome with Leukocyte Inclusions and Macrothrombocytopenia (Fechtner Syndrome) to Chromosome 22q11-13

Retinitis Pigmentosa and Progressive Sensorineural Hearing Loss Caused by a C12258A Mutation in the Mitochondrial MTTS2 Gene Fiona C. Mansergh, Sophia.

Ryan McDaniell, Daniel M. Warthen, Pedro A

Vandana Shashi, Margaret N. Berry, Sarah Shoaf, James J

Dominique J. Verlaan, Adrian M. Siegel, Guy A. Rouleau

Opitz G/BBB Syndrome in Xp22: Mutations in the MID1 Gene Cluster in the Carboxy- Terminal Domain Karin Gaudenz, Erich Roessler, Nandita Quaderi, Brunella.

Justin D. Smith, MD, Jeffrey M. Vinocur, MD HeartRhythm Case Reports

A Gene for Fluctuating, Progressive Autosomal Dominant Nonsyndromic Hearing Loss, DFNA16, Maps to Chromosome 2q Kunihiro Fukushima, Norio Kasai,

Hereditary Isolated Renal Magnesium Loss Maps to Chromosome 11q23

Oligodontia Is Caused by Mutation in LTBP3, the Gene Encoding Latent TGF-β Binding Protein 3 Abdul Noor, Christian Windpassinger, Irina Vitcu, Marija.

Wim Van Hul, Wendy Balemans, Els Van Hul, Frederik G

Arun Kumar, Satish C. Girimaji, Mahesh R. Duvvari, Susan H. Blanton

Dror Sharon, Michael A. Sandberg, Vivian W

Type and Level of RMRP Functional Impairment Predicts Phenotype in the Cartilage Hair Hypoplasia–Anauxetic Dysplasia Spectrum Christian T. Thiel, Geert.

Gain-of-Function Mutation of KIT Ligand on Melanin Synthesis Causes Familial Progressive Hyperpigmentation Zhi-Qiang Wang, Lizhen Si, Quan Tang, Debao.

A Gene for Autosomal Recessive Spondylocostal Dysostosis Maps to 19q13

Familial Isolated Clubfoot Is Associated with Recurrent Chromosome 17q23.1q23.2 Microduplications Containing TBX4 David M. Alvarado, Hyuliya Aferol,

A Locus for Autosomal Dominant Hereditary Spastic Ataxia, SAX1,Maps to Chromosome 12p13 I.A. Meijer, C.K. Hand, K.K. Grewal, M.G. Stefanelli, E.J. Ives,

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males Hilde Van Esch, Marijke.

Identification of Novel pro-α2(IX) Collagen Gene Mutations in Two Families with Distinctive Oligo-Epiphyseal Forms of Multiple Epiphyseal Dysplasia Paul.

Brachydactyly Type B: Clinical Description, Genetic Mapping to Chromosome 9q, and Evidence for a Shared Ancestral Mutation Yaoqin Gong, David Chitayat,

Presentation transcript:

A New Autosomal Recessive Form of Stickler Syndrome Is Caused by a Mutation in the COL9A1 Gene Guy Van Camp, Rikkert L. Snoeckx, Nele Hilgert, Jenneke van den Ende, Hisakumi Fukuoka, Michio Wagatsuma, Hiroaki Suzuki, R.M. Erica Smets, Filip Vanhoenacker, Frank Declau, Paul Van De Heyning, Shin-ichi Usami The American Journal of Human Genetics Volume 79, Issue 3, Pages 449-457 (September 2006) DOI: 10.1086/506478 Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigree of the family with autosomal recessive Stickler syndrome. Blackened symbols represent individuals with Stickler syndrome, and unblackened symbols represent individuals with a normal phenotype. Individual II.2 is a girl with hypophosphatemic rickets thought to be unrelated to Stickler syndrome. For all family members, the age when the clinical investigations were performed; the genotype; the PTA, or Fletcher index (FI), of the better ear; and the refractions for the right (R) and left (L) eyes are given below each symbol. For the affected individuals, extra clinical data on the ophthalmologic and radiological findings are also shown. wt = wild type; y = years. The American Journal of Human Genetics 2006 79, 449-457DOI: (10.1086/506478) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 2 A, Pictures of the four affected family members. The height of all patients is <3rd percentile. They all have a relatively flat face. All patients wear glasses because of amblyopia with high myopia and astigmatism. They all have genua valga. B, Pictures of the six unaffected children. The facial features between unaffected and affected individuals are indistinguishable. The American Journal of Human Genetics 2006 79, 449-457DOI: (10.1086/506478) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 3 A, Most-recent air conduction thresholds of the better ear for each of the four patients. The hearing loss is moderate to severe, with a mildly down-sloping audiogram. B, Air conduction thresholds of the better ear for each of the parents (bold lines) and unaffected children. The father has normal hearing for his age, with a bilateral sensorineural dip at 4,000 Hz, probably caused by known professional noise exposure. The mother has mild hearing loss of unknown cause. None of the unaffected children has hearing loss. The American Journal of Human Genetics 2006 79, 449-457DOI: (10.1086/506478) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 4 A, Standard radiograph of the hands and wrists of individual II.3 at age 20 years. Flattening, underdevelopment, and squaring of the heads of the metacarpal bones, particularly at metacarpal IV bilaterally, are indicated (arrows). Also note bilateral clinodactyly as an incidental finding. B–E, Radiographs of individual II.9 at age 10 years. B, Standard radiograph of the pelvis. Flattening and irregular delineation of the left femoral epiphysis are indicated (arrow). Also note the broadening of the femoral neck, particularly at the left side. C, Standard radiograph of the hands and wrists. Subtle flattening and squaring of the metacarpal heads are indicated (arrows). D, Standard radiograph of the left knee and lower leg. Note slight overtubulation and narrowness of the diaphyses of the femur, tibia, and fibula. E, Detail of the left tibia and fibula. F, Standard radiograph of the pelvis of individual II.10 at age 7 years. Slight flattening and irregularity of the femoral epiphyses are indicated (arrows). Also note the broadening of the femoral neck, particularly at the left side (asterisk [*]). G, Spot view of the slightly flattened and irregular left femoral epiphysis of individual II.10. The American Journal of Human Genetics 2006 79, 449-457DOI: (10.1086/506478) Copyright © 2006 The American Society of Human Genetics Terms and Conditions