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

[21] Multiple subcutaneous folds in oculocerebrorenal syndrome of Lowe
Wanigasinghe, J.
Mettananda, S.
de Silva, K. S.
Gunethilake, S.
CEYLON MEDICAL JOURNAL, 2013, 58 (01) : 37 - +
[22] COGNITIVE AND BEHAVIORAL PROFILE OF THE OCULOCEREBRORENAL SYNDROME OF LOWE
KENWORTHY, L
PARK, T
CHARNAS, LR
AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 46 (03): : 297 - 303
[23] RADIOLOGICAL CASES OF THE MONTH - LOWE (OCULOCEREBRORENAL) SYNDROME
LOUGHEAD, JL
MIMOUNI, F
SHILING, S
WOOD, BP
AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1992, 146 (10): : 1209 - 1210
[24] Oral anomalies associated with the oculocerebrorenal syndrome of Lowe: Case report with multiple unerupted teeth and pericoronal radiolucencies
Brooks, John K.
Ahmad, Rizwan
ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY AND ENDODONTOLOGY, 2009, 107 (03): : E32 - E35
[25] NONSENSE MUTATIONS IN THE OCRL-1 GENE IN PATIENTS WITH THE OCULOCEREBRORENAL SYNDROME OF LOWE
LEAHEY, AM
CHARNAS, LR
NUSSBAUM, RL
HUMAN MOLECULAR GENETICS, 1993, 2 (04) : 461 - 463
[26] Lowe Syndrome: A Complex Clinical Diagnosis with a Novel Mutation in the OCRL Gene
Parikh, Akanksha C.
Gadgil, Pradnya
JOURNAL OF CHILD SCIENCE, 2021, 11 (01): : E45 - E48
[27] RENAL TUBULAR AND GLOMERULAR DYSFUNCTION IN THE OCULOCEREBRORENAL SYNDROME OF LOWE
CHARNAS, L
ADAMSON, MD
BERNARDINI, IM
GAHL, WA
PEDIATRIC RESEARCH, 1989, 25 (04) : A337 - A337
[28] Oculocerebrorenal Syndrome of Lowe: Characterizations of Ocular Presentation and Management
Ma, Xiaowan
Ning, Ke
Kowal, Tia
Sun, Yang
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2019, 60 (09)
[29] MR findings and neurologic manifestations in lowe oculocerebrorenal syndrome
Ono, J
Harada, K
Mano, T
Yamamoto, T
Okada, S
PEDIATRIC NEUROLOGY, 1996, 14 (02) : 162 - 164
[30] Oculocerebrorenal syndrome of Lowe: Survey of ophthalmic presentations and management
Ma, Xiaowan
Ning, Ke
Jabbehdari, Sayena
Prosseda, Philipp P.
Hu, Yang
Shue, Ann
Lambert, Scott R.
Sun, Yang
EUROPEAN JOURNAL OF OPHTHALMOLOGY, 2020, 30 (05) : 966 - 973

← 1 2 3 4 5 →