PIK3R1 mutations in SHORT syndrome

Clinical Genetics

Volumn 86, Issue 3, 2014, Pages 292-294

  Schroeder, C ^a   Riess, A ^a   Bonin, M ^a   Bauer, P ^a   Riess, O ^a   Dobler Neumann M ^b   Wieser, S ^c,d   Moog, U ^c   Tzschach, A ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^c UNIVERSITY OF HEIDELBERG   (Germany)

^d PARACELSUS MEDICAL UNIVERSITY   (Austria)

Author keywords

Ectopic kidney; Lipodystrophy; PIK3R1; Pulmonary stenosis; Rieger anomaly; Short stature; SHORT syndrome

Indexed keywords

PHOSPHATIDYLINOSITOL 3 KINASE; PIK3R1 PROTEIN; UNCLASSIFIED DRUG; PIK3R1 PROTEIN, HUMAN; PRIMER DNA;

ALLELE; ARTICLE; ASTIGMATISM; AUTOSOMAL DOMINANT DISORDER; BIRTH WEIGHT; BODY HEIGHT; BODY WEIGHT; CASE REPORT; CHILD; CLINICAL FEATURE; COGNITIVE DEFECT; COGNITIVE DEVELOPMENT; CONVERGENT STRABISMUS; ECHOCARDIOGRAPHY; ECTOPIC KIDNEY; FACE DYSMORPHIA; FEMALE; GENE MUTATION; GROWTH DISORDER; HUMAN; HYPOGLYCEMIA; INGUINAL HERNIA; INTENSIVE CARE UNIT; IRIS ATROPHY; LANGUAGE DELAY; LARGE EAR; LIPODYSTROPHY; LOW BIRTH WEIGHT; MALE; MICROCEPHALY; MICROGNATHIA; MOUTH DISEASE; NEWBORN PERIOD; OLIGOHYDRAMNIOS; PHILTRUM; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; PULMONARY VALVE STENOSIS; SCANTY HAIR; SCHOOL CHILD; SHORT STATURE; SHORT SYNDROME; SPEECH THERAPY; STROMA; SUBCUTANEOUS FAT; TOOTH DISEASE; TOOTH ERUPTION; UNDERWEIGHT; WILD TYPE; DNA SEQUENCE; GENETIC PREDISPOSITION; GENETICS; HETEROZYGOTE; HYPERCALCEMIA; KIDNEY CALCIFICATION; METABOLIC DISORDER; MISSENSE MUTATION; PATHOLOGY; POLYMERASE CHAIN REACTION;

DNA PRIMERS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GROWTH DISORDERS; HETEROZYGOTE; HUMANS; HYPERCALCEMIA; MALE; METABOLIC DISEASES; MUTATION, MISSENSE; NEPHROCALCINOSIS; PHOSPHATIDYLINOSITOL 3-KINASES; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

EID: 84907598276     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12263     Document Type: Article

References (8)

1. Gorlin R, Cervenka J, Moller K, Horrobin M, Witkop CJ Jr. Malformation syndromes. A selected miscellany. Birth Defects Orig Artic Ser 1975: 11: 39-50.
2. Reardon W, Temple I. Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome. Am J Med Genet A 2008: 146A: 1296-1298.
3. Koenig R, Brendel L, Fuchs S. SHORT syndrome. Clin Dysmorphol 2003: 12: 45-49.
4. Lipson A, Cowell C, Gorlin R. The SHORT syndrome: further delineation and natural history. J Med Genet 1989: 26: 473-475.
5. Dyment D, Smith A, Alcantara D et al. Mutations in PIK3R1 cause SHORT syndrome. Am J Hum Genet 2013: 93: 158-166.
6. Chudasama K, Winnay J, Johansson S et al. SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. Am J Hum Genet 2013: 93: 150-157.
7. Thauvin-Robinet C, Auclair M, Duplomb L et al. PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. Am J Hum Genet 2013: 93: 141-149.
8. Schwingshandl J, Mache C, Rath K, Borkenstein MH. SHORT syndrome and insulin resistance. Am J Med Genet 1993: 47: 907-909.