Lowe Syndrome - Case Report with a Novel Mutation in the Oculocerebrorenal Gene

被引：0

作者：

Sethi, Suman ^{[1
]}

Sethi, Nitin ^{[2
]}

Mehta, Sudhir ^{[1
]}

Kaur, Simran ^{[1
]}

Makkar, Vikas ^{[1
]}

Sohal, P. M. ^{[1
]}

机构：

[1] Dayanand Med Coll & Hosp, Dept Nephrol, Ludhiana, Punjab, India

[2] Fortis Hosp, Dept Surg, Ludhiana, Punjab, India

来源：

SAUDI JOURNAL OF KIDNEY DISEASES AND TRANSPLANTATION | 2020年 / 31卷 / 01期

关键词：

OCRL1; GENE;

D O I：

10.4103/1319-2442.279955

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

The oculocerebrorenal (OCRL) syndrome, also known as Lowe syndrome (LS), is an X-linked recessive disorder that predominantly affects males and is characterized by growth and mental retardation, congenital cataract and renal Fanconi syndrome. OCRL1 is the gene responsible for LS and encodes an inositol polyphosphate-5-phosphatase. We report a male child from North India, with LS with missense mutation in exon 14 of the OCRL gene.

引用

页码：285 / 288

页数：4

共 50 条

[1] OCULOCEREBRORENAL SYNDROME OF LOWE - A CASE REPORT
FISHER, NF
HALLETT, J
CARPENTER, G
ARCHIVES OF OPHTHALMOLOGY, 1967, 77 (05) : 642 - +
[2] Identification of a Novel OCRL Mutation in Oculocerebrorenal Syndrome of Lowe
Luo, Na
Mairs, Laura Claire
Hu, Xinyao
Turner, Matthew J.
Neely, Daniel E.
Spandau, Dan F.
Sun, Yang
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2014, 55 (13)
[3] THE OCULOCEREBRORENAL SYNDROME OF LOWE
LAVIN, CW
MCKEOWN, CA
INTERNATIONAL OPHTHALMOLOGY CLINICS, 1993, 33 (02) : 179 - 191
[4] The oculocerebrorenal syndrome of Lowe: an update
Bokenkamp, Arend
Ludwig, Michael
PEDIATRIC NEPHROLOGY, 2016, 31 (12) : 2201 - 2212
[5] The oculocerebrorenal syndrome of Lowe: an update
Arend Bökenkamp
Michael Ludwig
Pediatric Nephrology, 2016, 31 : 2201 - 2212
[6] Glaucoma with the oculocerebrorenal syndrome of Lowe
Walton, DS
Katsavounidou, G
Lowe, CU
JOURNAL OF GLAUCOMA, 2005, 14 (03) : 181 - 185
[7] Oculocerebrorenal Lowe syndrome: a literature review and two case reports
Santos, Maria Teresa Botti Rodrigues
Watanabe, Melina Mayumi
Manzano, Felipe Scalco
Haick Lopes, Cristiane
Masiero, Danilo
SPECIAL CARE IN DENTISTRY, 2007, 27 (03) : 108 - 111
[8] A case of Lowe syndrome (oculocerebrorenal syndrome): Clinical implications and anaesthetic management
Ramanathan, G.
Patil, S.
SOUTHERN AFRICAN JOURNAL OF ANAESTHESIA AND ANALGESIA, 2009, 15 (02) : 29 - 31
[9] OCRL Mutations in Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Presentations
Lim, Maria E.
Luo, Na
Mairs, Laura
Hu, Xinyao
Neely, Daniel
Spandau, Dan
Sun, Yang
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2015, 56 (07)
[10] A NEW VARIANT OF LOWE OCULOCEREBRORENAL SYNDROME
FURUSE, A
MATSUDA, I
TERASHIMA, T
SHIMAZOE, K
KONDO, T
NAGATA, N
HATTORI, S
TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE, 1980, 132 (04): : 385 - 388

← 1 2 3 4 5 →