Further case of microdeletion of 8q24 with phenotype overlapping Langer-Giedion without TRPS1 deletion

被引：25

作者：

McBrien, Jacqueline ^{[1
]}

Crolla, John Anthony

Huang, Shuwen

Kelleher, Jerry ^{[2
]}

Gleeson, John ^{[3
]}

Lynch, Sally Ann ^{[1
]}

机构：

[1] Our Ladys Childrens Hosp, Natl Ctr Med Genet, Dublin, Ireland

[2] Our Ladys Childrens Hosp, Dept Radiol, Dublin, Ireland

[3] Sligo Gen Hosp, Dept Pediat, Sligo, Ireland

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2008年 / 146A卷 / 12期

关键词：

EXT1; TRPS1; 8q24.1; deletion; toe pads;

D O I：

10.1002/ajmg.a.32347

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Langer-Giedion syndrome results from a microdeletion at 8q24.1 encompassing the EXT1 and the adjacent TPPS1 gene. We report on a boy with an oligo array-cgh characterized small microdeletion involving EXT1 alone but with some features of Langer-Giedion syndrome suggesting a functional disturbance of TRPS1. This boy, in addition to a mild Langer-Giedion like phenotype, also had some Unusual features including prominent toe pads and fat pads on the soles of his feet similar to those described in Pierpont syndrome. (C) 2008 Wiley-Liss, Inc.

引用

页码：1587 / 1592

页数：6

共 11 条

[1] Phalangeal cone-shaped epiphyses of the hand: their natural history, diagnostic sensitivity, and specificity in cartilage hair hypoplasia and the trichorhinophalangeal syndromes I and II [J].

Giedion, A .

PEDIATRIC RADIOLOGY, 1998, 28 (10) :751-758

[2]

GIEDION A, 1973, HELV PAEDIATR ACTA, V28, P249

[3]

HALL B D, 1974, Birth Defects Original Article Series, V10, P147

[4] THE TRICHO-RHINO-PHALANGEAL SYNDROME WITH EXOSTOSES (OR LANGER-GIEDION SYNDROME) - 4 ADDITIONAL PATIENTS WITHOUT MENTAL-RETARDATION AND REVIEW OF THE LITERATURE [J].

LANGER, LO ;

KRASSIKOFF, N ;

LAXOVA, R ;

SCHEERWILLIAMS, M ;

LUTTER, LD ;

GORLIN, RJ ;

JENNINGS, CG ;

DAY, DW .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1984, 19 (01) :81-112

[5] Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III [J].

Lüdecke, HJ ;

Schaper, J ;

Meinecke, P ;

Momeni, P ;

Gross, S ;

von Holtum, D ;

Hirche, H ;

Abramowicz, MJ ;

Albrecht, B ;

Apacik, C ;

Christen, HJ ;

Claussen, U ;

Devriendt, K ;

Fastnacht, E ;

Forderer, A ;

Friedrich, U ;

Goodship, THJ ;

Greiwe, M ;

Hamm, H ;

Hennekam, RCM ;

Hinkel, GK ;

Hoeltzenbein, M ;

Kayserili, H ;

Majewski, F ;

Mathieu, M ;

McLeod, R ;

Midro, AT ;

Moog, U ;

Nagai, T ;

Niikawa, N ;

Orstavik, KH ;

Plöchl, E ;

Seitz, C ;

Schmidtke, J ;

Tranebjærg, L ;

Tsukahara, M ;

Wittwer, B ;

Zabel, B ;

Gillessen-Kaesbach, G ;

Horsthemke, B .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (01) :81-91

[6] Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I [J].

Momeni, P ;

Glöckner, G ;

Schmidt, O ;

von Holtum, D ;

Albrecht, B ;

Gillessen-Kaesbach, G ;

Hennekam, R ;

Meinecke, P ;

Zabel, B ;

Rosenthal, A ;

Horsthemke, B ;

Lüdecke, HJ .

NATURE GENETICS, 2000, 24 (01) :71-74

[7] Side effects of genome structural changes [J].

Reymond, Alexandre ;

Henrichsen, Charlotte N. ;

Harewood, Louise ;

Merla, Giuseppe .

CURRENT OPINION IN GENETICS & DEVELOPMENT, 2007, 17 (05) :381-386

[8] Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion [J].

Wuyts, W ;

Roland, D ;

Lüdecke, HJ ;

Wauters, J ;

Foulon, M ;

Van Hul, W ;

Van Maldergem, L .

AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 113 (04) :326-332

[9] Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses [J].

Wuyts, W ;

Van Hul, W ;

De Boulle, K ;

Hendrickx, J ;

Bakker, E ;

Vanhoenacker, F ;

Mollica, F ;

Lüdecke, HJ ;

Sayli, BS ;

Pazzaglia, UE ;

Mortier, G ;

Hamel, B ;

Conrad, EU ;

Matsushita, M ;

Raskind, WH ;

Willems, PJ .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (02) :346-354

[10] LANGER-GIEDION SYNDROME WITH INTERSTITIAL 8Q-DELETION [J].

ZABEL, BU ;

BAUMANN, WA .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1982, 11 (03) :353-358

← 1 2 →