Hyperphosphatasia with mental retardation syndrome, expanded phenotype of PIGL related disorders

被引：12

作者：

Altassan, Ruqaiah ^{[1
]}

Fox, Stephanie ^{[1
]}

Poulin, Chantal ^{[2
]}

Buhas, Daniela ^{[1
,3
]}

机构：

[1] McGill Univ, Hlth Ctr, Montreal Childrens Hosp, Dept Med Genet, 1001 Decarie Blvd, Montreal, PQ H4A 3J1, Canada

[2] McGill Univ, Hlth Ctr, Montreal Childrens Hosp, Dept Pediat,Div Neurol, Montreal, PQ, Canada

[3] McGill Univ, Dept Human Genet, Montreal, PQ, Canada

来源：

MOLECULAR GENETICS AND METABOLISM REPORTS | 2018年 / 15卷

关键词：

GPI biogenesis; Hyperphosphatasia mental retardation syndrome (HPMRS); Mabry syndrome; PIGL gene; CHIME syndrome; ANCHOR-SYNTHESIS PATHWAY; MABRY SYNDROME; CHIME SYNDROME; DEVELOPMENTAL DELAY; NEUROLOGIC DEFICIT; MUTATIONS; GLYCOSYLPHOSPHATIDYLINOSITOL; EPILEPSY; SPECTRUM; DEFICIENCIES;

D O I：

10.1016/j.ymgmr.2018.01.007

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Hypomorphic mutations in six different genes involved in the glycosylphosphatidylinositol (GPI) biogenesis pathway are linked to Mabry syndrome (hyperphosphatasia with mental retardation syndrome, HPMRS). This report on the third affected family with a HPMRS phenotype caused by mutations in PIGL, confirming the seventh GPI biogenesis gene linked to HPMRS. Two siblings presented with the main features of HPMRS; developmental delay, cognitive impairment, seizure disorder, skeletal deformities, and high alkaline phosphatase. We identified two heterozygous mutations in the PIGL gene (P. Trp20Ter and p. Arg88Cys). PIGL mutations have been linked to another distinctive neuroectodermal disorder: CHIME syndrome. The clinical picture of our patients expands the spectrum of PIGL-related phenotypes.

引用

页码：46 / 49

页数：4

共 32 条

[1] Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome [J].

Chiyonobu, Tomohiro ;

Inoue, Norimitsu ;

Morimoto, Masafumi ;

Kinoshita, Taroh ;

Murakami, Yoshiko .

JOURNAL OF MEDICAL GENETICS, 2014, 51 (03) :203-207

[2]

Cole DEC, 2015, SUBCELL BIOCHEM, V76, P343, DOI 10.1007/978-94-017-7197-9_16

[3]

Ferguson M.A.J., 2009, ESSENTIALS GLYCOBIOL

[4] Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways [J].

Freeze, Hudson H. ;

Chong, Jessica X. ;

Bamshad, Michael J. ;

Ng, Bobby G. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2014, 94 (02) :161-175

[5] Mutations in PIGL in a Patient with Mabry Syndrome [J].

Fujiwara, Ikuma ;

Murakami, Yoshiko ;

Niihori, Tetsuya ;

Kanno, Junko ;

Hakoda, Akiko ;

Sakamoto, Osamu ;

Okamoto, Nobuhiko ;

Funayama, Ryo ;

Nagashima, Takeshi ;

Nakayama, Keiko ;

Kinoshita, Taroh ;

Kure, Shigeo ;

Matsubara, Yoichi ;

Aoki, Yoko .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (04) :777-785

[6] Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome [J].

Horn, Denise ;

Wieczorek, Dagmar ;

Metcalfe, Kay ;

Baric, Ivo ;

Palezac, Lidija ;

Cuk, Mario ;

Ramadza, Danijela Petkovic ;

Krueger, Ulrike ;

Demuth, Stephanie ;

Heinritz, Wolfram ;

Linden, Tobias ;

Koenig, Jens ;

Robinson, Peter N. ;

Krawitz, Peter .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2014, 22 (06) :762-767

[7] Hyperphosphatasia-Mental Retardation Syndrome Due to PIGV Mutations: Expanded Clinical Spectrum [J].

Horn, Denise ;

Krawitz, Peter ;

Mannhardt, Anca ;

Korenke, Georg Christoph ;

Meinecke, Peter .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (08) :1917-1922

[8] Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: Delineation of a recognizable syndrome [J].

Horn, Denise ;

Schottmann, Gudrun ;

Meinecke, Peter .

EUROPEAN JOURNAL OF MEDICAL GENETICS, 2010, 53 (02) :85-88

[9] Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation [J].

Howard, Malcolm F. ;

Murakami, Yoshiko ;

Pagnamenta, Alistair T. ;

Daumer-Haas, Cornelia ;

Fischer, Bjoern ;

Hecht, Jochen ;

Keays, David A. ;

Knight, Samantha J. L. ;

Koelsch, Uwe ;

Krueger, Ulrike ;

Leiz, Steffen ;

Maeda, Yusuke ;

Mitchell, Daphne ;

Mundlos, Stefan ;

Phillips, John A., III ;

Robinson, Peter N. ;

Kini, Usha ;

Taylor, Jenny C. ;

Horn, Denise ;

Kinoshita, Taroh ;

Krawitz, Peter M. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2014, 94 (02) :278-287

[10] Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies [J].

Ilkovski, Biljana ;

Pagnamenta, Alistair T. ;

O'Grady, Gina L. ;

Kinoshita, Taroh ;

Howard, Malcolm F. ;

Lek, Monkol ;

Thomas, Brett ;

Turner, Anne ;

Christodoulou, John ;

Sillence, David ;

Knight, Samantha J. L. ;

Popitsch, Niko ;

Keays, David A. ;

Anzilotti, Consuelo ;

Goriely, Anne ;

Waddell, Leigh B. ;

Brilot, Fabienne ;

North, Kathryn N. ;

Kanzawa, Noriyuki ;

Macarthur, Daniel G. ;

Taylor, Jenny C. ;

Kini, Usha ;

Murakami, Yoshiko ;

Clarke, Nigel F. .

HUMAN MOLECULAR GENETICS, 2015, 24 (21) :6146-6159

← 1 2 3 4 →