Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: Toward recommendation for molecular testing and management

Clinical Genetics

Volumn 89, Issue 4, 2016, Pages 501-506

  Avila, M ^a,b   Dyment, D A ^c   Sagen, J V ^d,e   St Onge, J ^a,b   Moog, U ^f   Chung, B H Y ^g   Mo, S ^g   Mansour, S ^h   Albanese, A ⁱ   Garcia, S ^j,k   Martin, D O ^l   Lopez, A A ^m   Claudi, T ⁿ   Konig R ^o   White, S M ^p,q   Sawyer, S L ^c   Bernstein, J A ^r   Slattery, L ^r   Jobling, R K ^s   Yoon, G ^s   Curry, C J ^t   Merrer, M L ^u   Luyer, B L ^v   Heron D ^w   Mathieu Dramard, M ^x   Bitoun, P ^y   Odent, S ^z,aa   Amiel, J ^u   Kuentz, P ^a   Thevenon, J ^a,ab   Laville, M ^ac,ad   Reznik, Y ^ae   Fagour, C ^af   Nunes, M L ^af   Delesalle, D ^v   Manouvrier, S ^ag   Lascols, O ^ah,ai,aj,ak   Huet, F ^a,b   Binquet, C ^b   Faivre, L ^a,ab   Riviere J B ^a,b   Vigouroux, C ^ah,ai,aj,ak   Njolstad P R ^d   Innes, A M ^al   Thauvin Robinet, C ^a,ab,am   more..

^a UNIVERSITÉ DE BOURGOGNE   (France)

^b DIJON UNIVERSITY HOSPITAL   (France)

^c CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^d HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^e UNIVERSITY OF BERGEN   (Norway)

^f UNIVERSITY OF HEIDELBERG   (Germany)

^g THE UNIVERSITY OF HONG KONG SHENZHEN HOSPITAL   (China)

^h ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

ⁱ ST GEORGE S HOSPITAL   (United Kingdom)

^j HOSPITAL UNIVERSITARIO LA PAZ IDIPAZ   (Spain)

^k CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^l HOSPITAL CENTRAL DE LA CRUZ ROJA   (Spain)

^m HOSPITAL UNIVERSITARIO PUERTA DE HIERRO   (Spain)

ⁿ University Hospital ^*  (Norway)

^o GOETHE UNIVERSITY   (Germany)

^p MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^q UNIVERSITY OF MELBOURNE   (Australia)

^r STANFORD UNIVERSITY   (United States)

^s HOSPITAL FOR SICK CHILDREN   (Canada)

^t UNIVERSITY OF CALIFORNIA   (United States)

^u HÔPITAL NECKER ENFANTS MALADES   (France)

^v Departement de Pediatrie   (France)

^w Centre de Rèfèrence 'dè Ficiences Intellectuelles de Causes Rares   (France)

^x Service de Génétique clinique   (France)

^y Service de pédiatrie HÔpital Jean Verdier   (France)

^z Service de Génétique clinique   (France)

^aa UNIVERSITÉ DE RENNES 1   (France)

^ab FHU TRANSLAD   (France)

^ac CENTRE HOSPITALIER LYON SUD   (France)

^ad UNIVERSITÉ LYON 1   (France)

^ae CHU CÔTE DE NACRE   (France)

^af HAUT LÉVÊQUE HOSPITAL   (France)

^ag LILLE UNIVERSITY HOSPITAL   (France)

^ah CENTRE DE RECHERCHE SAINT ANTOINE   (France)

^ai SORBONNE UNIVERSITÉ   (France)

^aj PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^ak HÔPITAL SAINT ANTOINE   (France)

^al UNIVERSITY OF CALGARY   (Canada)

^am Medical University of Dijon   (France)

more..

Author keywords

Diabetes; Insulin resistance; Intrauterine growth restriction; Lipoatrophy; PIK3R1 gene; Short stature; SHORT syndrome

Indexed keywords

PHOSPHATIDYLINOSITOL 3 KINASE; PHOSPHATIDYLINOSITOL 3 KINASE RECEPTOR 1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CLINICAL FEATURE; COHORT ANALYSIS; CONGENITAL MALFORMATION; DIABETES MELLITUS; FEMALE; FOLLOW UP; GENE MUTATION; HIGH RISK PATIENT; HUMAN; INGUINAL HERNIA; INSULIN RESISTANCE; INTRAUTERINE GROWTH RETARDATION; LIPOATROPHY; MALE; MOLECULAR DIAGNOSIS; OUTCOME ASSESSMENT; PATIENT MONITORING; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; SHORT SYNDROME; SPEECH DELAY;

EID: 84949591436     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12688     Document Type: Article

References (12)

1. Gorlin RJ. A selected miscellany. Birth Defects Orig Art Ser 1975: 11 (2): 39-50.
2. Thauvin-Robinet C, Auclair M, Duplomb L et al. PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. Am J Med Genet 2013: 93 (11): 141-149. DOI: 10.1016/j.ajhg.2013.05.019.
3. Dyment DA, Smith AC, Alcantara D et al. Mutations in PIK3R1 cause SHORT syndrome. Am J Med Genet 2013: 93 (11): 158-166. DOI: 10.1016/j.ajhg.2013.06.005.
4. Chudasama KK, Winnay J, Johanson S et al. SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. Am J Med Genet 2013: 93 (11): 150-157. DOI: 10.1016/j.ajhg.2013.05.023.
5. Aarskog D, Ose L, Pande H, Eide N. Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetes. Am J Med Genet 1983: 15: 29-38.
6. Bankier A, Keith CG, Temple IK. Absent iris stroma, narrow body build and small facial bones: a new association or variant of SHORT syndrome? Clin Dysmorph 1995: 4: 304-312.
7. Schroeder C, Riess A, Bonin M et al. PIK3R1 mutations in SHORT syndrome. Clin Genet 2014: 86 (3): 292-294. DOI: 10.1111/cge.12263.
8. Barcena C, Quesada V, De Sandre-Giovannoli A et al. Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome. BMC 2014: 15: 51. DOI: 10.1186/1471-2350-15-51.
9. Miled N, Yan Y, Hon W-C et al. Mechanism of two classes of cancer mutations in the phosphoinositide 3-kinase catalytic subunit. Science 2007: 317: 239-242. DOI: 10.1126/science.1135394.
10. Hofmann B, Jücker M. Activation of PI3K/Akt signaling by n-terminal SH2 domain mutants of the p85α regulatory subunit of PI3K is enhanced by deletion of its c-terminal SH2 domain. Cell Signal 2012: 24: 1950-1954. DOI: 10.1016/j.cellsig.2012.06.009.
11. Klammt J, Pfaffle R, Werner H, Kiess W. IGF signaling defects as cause of growth failure and IUGR. Trends Endocrinol Metab 2008: 19 (6): 197-205. DOI: 10.1016/j.tem.2008.03.003.
12. Prontera P, Micale L, Verrotti A, Napolioni V, Stangoni G, Merla G. A new homozygous IGF1R variant defines a clinically recognizable incomplete dominant form of SHORT syndrome. Hum Mutat 2015: 36: 1043-7.