Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: Expanded clinical spectrum

American Journal of Medical Genetics, Part A

Volumn 155, Issue 8, 2011, Pages 1917-1922

  Horn, Denise ^a   Krawitz, Peter ^a   Mannhardt, Anca ^b   Korenke, Georg Christoph ^c   Meinecke, Peter ^d  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b Werner Otto Institut   (Germany)

^c KLINIKUM OLDENBURG   (Germany)

^d UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

Anorectal malformations; AP; Brachytelephalangy; Cleft lip palate; Hirschsprung disease; Hyperphosphatasia; Hypoplasia of distal phalanges; Intellectual disability; Mental retardation; Seizures

Indexed keywords

ALKALINE PHOSPHATASE;

ALKALINE PHOSPHATASE BLOOD LEVEL; ANUS ATRESIA; ARTICLE; BRACHYTELEPHALANGY; CASE REPORT; CHILD; CLEFT LIP; CLEFT PALATE; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; FACE DYSMORPHIA; GENE; GENE SEQUENCE; HEARING IMPAIRMENT; HETEROZYGOTE; HIRSCHSPRUNG DISEASE; HOMOZYGOTE; HUMAN; HYPERPHOSPHATASIA; HYPERPHOSPHATASIA MENTAL RETARDATION SYNDROME; INTELLECTUAL IMPAIRMENT; MALE; MISSENSE MUTATION; MUSCLE HYPOTONIA; PHENOTYPE; PIGV GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; SYNDROME;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; BASE SEQUENCE; CASE-CONTROL STUDIES; CHILD, PRESCHOOL; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; FACE; FINGER PHALANGES; GENETIC ASSOCIATION STUDIES; HIRSCHSPRUNG DISEASE; HUMANS; INTELLECTUAL DISABILITY; MALE; MANNOSYLTRANSFERASES; POINT MUTATION; SEIZURES; SYNDROME;

EID: 79960561088     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34102     Document Type: Article

References (8)

1. Greulich WW, Pyle SI. 1959. Radiographic atlas of skeletal development of the hand and wrist, 2nd edition. Stanford, CA: Stanford University Press. pp 72-75.
2. Horn D, Schottmann G, Meinecke P. 2010. Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: Delineation of a recognizable syndrome. Eur J Med Genet 53:85-88.
3. Krawitz PM, Schweiger MR, Rodelsperger C, Marcelis C, Kolsch U, Meisel C, Stephani F, Kinoshita T, Murakami Y, Bauer S, Isau M, Fischer A, Dahl A, Kerick M, Hecht J, Köhler S, Jäger M, Grünhagen J, de Condor BJ, Doelken S, Brunner HG, Meinecke P, Passarge E, Thompson MD, Cole DE, Horn D, Roscioli T, Mundlos S, Robinson PN. 2010. Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet 42:827-829.
4. Kruse K, Hanefeld F, Kohlschutter A, Rosskamp R, Gross-Selbeck G. 1988. Hyperphosphatasia with mental retardation. J Pediatr 112:436-439.
5. Mabry CC, Bautista A, Kirk RF, Dubilier LD, Braunstein H, Koepke JA. 1970. Familial hyperphosphatasia with mental retardation, seizures, and neurologic deficits. J Pediatr 77:74-85.
6. Marcelis CL, Rieu P, Beemer F, Brunner HG. 2007. Severe mental retardation, epilepsy, anal anomalies, and distal phalangeal hypoplasia in siblings. Clin Dysmorphol 16:73-76.
7. Rabe P, Haverkamp F, Emons D, Rosskamp R, Zerres K, Passarge E. 1991. Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: Nosology and genetics of the Coffin-Siris syndrome. Am J Med Genet 41:350-354.
8. Thompson MD, Nezarati MM, Gillessen-Kaesbach G, Meinecke P, Mendoza R, Mornet E, Brun-Heath I, Squarcioni CP, Legeai-Mallet L, Munnich A, Cole DE. 2010. Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome. Am J Med Genet Part A 152A:1661-1669.